Gene Summary

Name:
LIM and calponin homology domains 1
Synonyms:
3732412D22Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Limch1tm1b(EUCOMM)Hmgu HOM Early adult 4.19×10-07
abnormal sleep behavior Limch1tm1b(EUCOMM)Hmgu HOM   Early adult 3.37×10-05
preweaning lethality, incomplete penetrance Limch1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 50% (1 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin Ambiguous
spinal cord Ambiguous
tail Ambiguous
tail somite group Ambiguous

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

32 Images

Adult LacZ

LacZ Images Section

29 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Electroretinography 2

Rod and cone PDF

3 Images

Human diseases caused by Limch1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Limch1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Zebra Body Myopathy
Muscle fiber splitting, Handgrip myotonia, Neck muscle weakness, Torticollis, Gowers sign, Rimmed... ORPHA:97240
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi... OMIM:616199
Rippling Muscle Disease 2
Muscle mounding, Skeletal muscle hypertrophy, Gowers sign, Calf muscle hypertrophy, Elevated circ... OMIM:606072
Paramyotonia Congenita Of Von Eulenburg
Abnormal blood potassium concentration, Handgrip myotonia, Facial muscle hypertrophy, Percussion ... ORPHA:684
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenom... OMIM:160800
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Generalized muscle weakness, Percussion myotonia, Rimmed vacuoles, Skeletal muscle fibrosis, Myof... ORPHA:34516
Distal Myopathy, Tateyama Type
Neck muscle weakness, Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of th... ORPHA:488650
Myopathy, Vacuolar, With Casq1 Aggregates
Proximal muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Elevated circ... OMIM:616231
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Myopathy, X-Linked, With Excessive Autophagy
Gowers sign, Muscle fiber necrosis, Elevated circulating creatine kinase concentration, Skeletal ... OMIM:310440
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Hyperuricemia, Skeletal muscle atrophy, Myotonia, Muscle weakness ORPHA:371
Myotonia Congenita, Autosomal Recessive
Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... OMIM:255700
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy, Myotonia, Muscle weakness OMIM:254950
Nonaka Myopathy
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... OMIM:605820
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Elevated circulating creatine k... ORPHA:611
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia, Episodic flaccid weakness, Myotonia, Muscle weakness, Myopathy OMIM:170400
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal upper limb muscle weakness, Dis... OMIM:617030
Welander Distal Myopathy
Mildly elevated creatine kinase, Distal amyotrophy, Rimmed vacuoles, Distal muscle weakness OMIM:604454
Myotonia, Potassium-Aggravated
Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Elevated circulating creatin... OMIM:608390
Brody Disease
Skeletal muscle hypertrophy, Percussion myotonia, Flexion contracture, Myotonia, Muscle weakness OMIM:601003
Paramyotonia Congenita
Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Muscle weakness, Paradoxical... OMIM:168300
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Muscle fiber necrosis, Increased v... OMIM:618848
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... ORPHA:206549
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... OMIM:617158
Rippling Muscle Disease 1
Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Facia... ORPHA:602
Oculopharyngodistal Myopathy 2
External ophthalmoplegia, Bulbar palsy, Rimmed vacuoles, EMG: myopathic abnormalities, Elevated c... OMIM:618940
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Elevated circulating creatine kinase concentration, Weakness of the intrinsi... OMIM:620286
Oculopharyngeal Muscular Dystrophy 1
Neck muscle weakness, Ragged-red muscle fibers, Facial palsy, Elevated circulating creatine kinas... OMIM:164300
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Reduced maximal inspiratory pressure, Fatty replacement of skeletal muscle, ... ORPHA:266
Hypokalemic Periodic Paralysis, Type 2
Episodic flaccid weakness, Myotonia, Hypokalemia OMIM:613345
Hyperkalemic Periodic Paralysis
Hyperkalemia, Episodic flaccid weakness, Myotonia OMIM:170500
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Neck muscle weakness, Muscle fiber inclusion bodies, Progres... ORPHA:399058
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Elevated circulat... OMIM:609115
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Scapuloperoneal weakness, Shoulder girdle muscle atrophy, Peroneal muscle atroph... OMIM:181400
Mitochondrial Myopathy With Diabetes
Neck muscle weakness, Ragged-red muscle fibers, Facial palsy, Weakness of orbicularis oculi muscl... OMIM:500002
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Elevated circulating creatine kinase concentration, Muscle fiber cytoplas... OMIM:609524
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Neck flexor weakness, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness,... ORPHA:457050
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Gowers sign, Calf muscle hypertrophy, Upper limb muscle weakness, Elevated circulating creatine k... ORPHA:209335
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Gowers sign, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Scapular winging, Upper limb... ORPHA:353
Distal Myopathy, Welander Type
Distal upper limb muscle weakness, Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic ... ORPHA:603
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Neck muscle weakness, Scapular winging, Angulated muscle fibers, Weakness of facial musculature, ... OMIM:619477
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Spinal muscular atrophy, Proxim... OMIM:158600
Inclusion Body Myositis
Proximal muscle weakness, Rimmed vacuoles, Inflammatory myopathy, Distal muscle weakness OMIM:147421
Tibial Muscular Dystrophy
Distal upper limb muscle weakness, Ankle weakness, Rimmed vacuoles, EMG: myopathic abnormalities,... ORPHA:609
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Elevated circulati... OMIM:601846
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy, Mildly elevated creatine kinase, Distal muscle weakness OMIM:614369
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:601954
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Elevated circulating creatine kinase concentratio... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Gowers sign, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abno... OMIM:254110
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Elevated circulating creatine kinase concentration, Mu... OMIM:609200
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Ragged-red muscle fibers, Facial palsy, Elevated circulating creatine kinase concentration, Neck ... OMIM:616209
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular dystrophy, Elevated circulating creatine concentration, Rimmed vacuoles, Scapular wingin... OMIM:608423
Distal Myopathy With Anterior Tibial Onset
Progressive proximal muscle weakness, Weakness of the intrinsic hand muscles, Absent muscle fiber... ORPHA:178400
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myotonia, Myopathy OMIM:158800
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Elevated circulating ... OMIM:619733
Myasthenic Syndrome, Congenital, 12
Neck muscle weakness, Fatigable weakness, Ragged-red muscle fibers, Gowers sign, Facial palsy, Mi... OMIM:610542
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Neck flexor weakness, Generalized limb muscle atrophy, Type 1 muscle fiber predominance, Generali... OMIM:608358
Myofibrillar Myopathy 10
Ankle flexion contracture, Knee flexion contracture, Percussion myotonia, Elbow flexion contractu... OMIM:619040
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Distal lower limb muscle weakness, Handgrip myotonia, Weakness of long finger extensor muscles, E... ORPHA:324442
Nemaline Myopathy 6
Facial palsy, Elevated circulating creatine kinase concentration, Nemaline bodies, Limb muscle we... OMIM:609273
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Abnormal circulating acylcarnitine concentration, Elevated circ... OMIM:620235
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Gowers sign, Wrist flexion contracture, Nemaline bodies, Elevated circulating creatine kinase con... OMIM:620386
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance, Muscle weakness OMIM:616304
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, ... OMIM:613530
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb amy... OMIM:620068
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Gowers sign, Calf muscle hypertrophy, Limb-girdle muscle atrophy, Scap... OMIM:608099
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb mus... OMIM:301075
Myopathy, Distal, 1
Distal lower limb muscle weakness, Neck muscle weakness, Ragged-red muscle fibers, Tibialis anter... OMIM:160500
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated ... OMIM:254130
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Weakness of facial... OMIM:618654
Tubular Aggregate Myopathy
Fatigable weakness, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased vari... ORPHA:2593
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Diaphragmatic weakness, Calf muscle hypertrophy, Rimmed vacuoles, Scapula... OMIM:603689
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Fatty replacement of skeletal muscle, Scapular winging, Elevated circulat... OMIM:618129
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Hypertriglyceridemia, Proximal muscle weakness in upper limbs, De... ORPHA:98855
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy, Ophthalmoplegia, Myotonia, Ophthalmoparesis ORPHA:99736
Spinal Muscular Atrophy, Type Iv
Calf muscle hypertrophy, Rimmed vacuoles, Muscle fiber necrosis, Spinal muscular atrophy, Increas... OMIM:271150
Myotonia Permanens
Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Ophthalmoplegia, Myotonia, Muscle we... ORPHA:99735
Myotonia Fluctuans
Handgrip myotonia, Myotonia of the upper limb, Myotonia with warm-up phenomenon, Spasticity of fa... ORPHA:99734
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Dist... OMIM:617760
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Poor head control, Elevated circulating creatine kinase concentration, Increased variability in m... OMIM:300717
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Op... ORPHA:270
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Hypertriglyceridemia, Proximal muscle weakness in upper limbs, De... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Hypertriglyceridemia, Proximal muscle weakness in upper limbs, De... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Hypertriglyceridemia, Proximal muscle weakness in upper limbs, De... ORPHA:261
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ragged-red muscle fibers, Scapular winging, Elevated circulating creatine kinase concentration, P... OMIM:617069
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Muscular dystrophy, Neck muscle weakness, Late-onset proximal muscle weak... OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Fatty replacement of skeletal muscle, EMG: myopathic abnormalities, Elevated ... OMIM:608807
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Increased varia... OMIM:612937
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb mus... OMIM:620402
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Progressive muscle weakness, Progressive proximal muscle weakness, Autoph... OMIM:609452
Congenital Myopathy 14
Neck muscle weakness, Generalized muscle weakness, Weakness of facial musculature, Abnormal circu... OMIM:618414
Myopathy, Distal, 4
Distal upper limb amyotrophy, Mildly elevated creatine kinase, Thenar muscle weakness, Skeletal m... OMIM:614065
Moderate Multiminicore Disease With Hand Involvement
Distal upper limb muscle weakness, Generalized muscle weakness, Facial palsy, Axial muscle weakne... ORPHA:178145
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, External ophthalmoplegia, Proximal muscle weakness in upper limbs... OMIM:160150
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Neck muscle weakness, Decreased circulating carnitine concentr... OMIM:500009
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Hand muscle weakness... OMIM:614321
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Gowers sign, Elevated circulating creatine kinase concentration,... OMIM:613204
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Generalized muscle weakness, Central core regions in muscle fibers, We... OMIM:117000
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Gowers sign, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, E... ORPHA:280333
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hypokalemia, Skeletal muscle hypertrophy, Episodic flaccid weakness, Elevated circu... ORPHA:682
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Distal muscle weakness, Increased variability in muscle fiber diameter, Hip co... OMIM:619042
Congenital Myopathy 6 With Ophthalmoplegia
Neck muscle weakness, Generalized muscle weakness, Muscle fiber inclusion bodies, Scapular wingin... OMIM:605637
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Elevated circulating cr... OMIM:253601
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Muscle... OMIM:620452
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Gowers sign, Calf muscle hypertrophy, EMG: myopathic abnormalit... OMIM:619178
Cardiomyopathy, Dilated, 1X
Gowers sign, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Increas... OMIM:611615
Myopathy, Scapulohumeroperoneal
Progressive muscle weakness, Facial palsy, Scapular winging, Nemaline bodies, Increased variabili... OMIM:616852
Finnish Upper Limb-Onset Distal Myopathy
Amyotrophy of ankle musculature, Rimmed vacuoles, Progressive proximal muscle weakness, EMG: myop... ORPHA:399086
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Muscular dystrophy, Bulbar palsy, Gowers sign, Rimmed vacuoles, Facial pa... OMIM:603511
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Scapular winging, Macroglossia,... OMIM:616052
Congenital Myopathy 18
Elevated circulating creatine kinase concentration, Axial muscle weakness, Increased variability ... OMIM:620246
Myotonic Dystrophy 2
Handgrip myotonia, Weakness of facial musculature, Elevated circulating creatine kinase concentra... OMIM:602668
Glycogen Storage Disease Ixd
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr... OMIM:300559
Myopathy, Distal, 3
Muscular dystrophy, Late-onset proximal muscle weakness, Distal amyotrophy, Rimmed vacuoles, EMG:... OMIM:610099
Myasthenic Syndrome, Congenital, 14
Fatigable weakness, Weakness of facial musculature, Ragged-red muscle fibers, Gowers sign, Scapul... OMIM:616228
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal circulatin... OMIM:614807
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, Scapuloperoneal weakness, EMG: my... OMIM:300696
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Generalized muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities... OMIM:609283
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Myotonia With Skeletal Abnormalities And Mental Retardation
Skeletal muscle hypertrophy, Myotonia, Firm muscles OMIM:255710
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Progressive proximal muscle weakness, Abnormal mitochondria in muscle t... ORPHA:663
Distal Myotilinopathy
Distal amyotrophy, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Abnormal m... ORPHA:98911
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of facial musculature, Progressive proximal muscle weakness, ... ORPHA:399103
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Elevated circulating creatine kinase concentration, Increased variability in mus... OMIM:300718
Thomsen And Becker Disease
Myotonia ORPHA:614
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Abnormal circulating creatine kinase concentration, Lowe... OMIM:620375
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Progressive externa... OMIM:617070
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Distal upper limb muscle weakness, Progressive proximal muscle weakness, Muscle fiber necrosis, E... OMIM:620138
Congenital Myopathy 10B, Mild Variant
Generalized limb muscle atrophy, Neck muscle weakness, Type 1 and type 2 muscle fiber minicore re... OMIM:620249
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Elevated circulating creatine kinase concentration, Increas... OMIM:612999
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Poor head control, Fatigable weakness, Facial palsy, Limb muscle weakness... OMIM:616313
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Bethlem Myopathy 2
Scapular winging, Elevated circulating creatine kinase concentration, Increased variability in mu... OMIM:616471
Congenital Myopathy 23
Neck muscle weakness, Gowers sign, Facial diplegia, Scapular winging, Nemaline bodies, Limb muscl... OMIM:609285
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Neck muscle weakness, Generalized muscle weakness, Hypocalcemia, Eleva... OMIM:615883
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Elevated circulating creatine kinase concentration... OMIM:617072
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... OMIM:616924
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, D... OMIM:619566
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb muscle weakness, Neck muscle weakness, Generalized muscle weakness, Facial dipl... OMIM:609284
Richieri Costa-Da Silva Syndrome
Distal lower limb muscle weakness, Handgrip myotonia, Asymmetric limb muscle stiffness, Myotonia ... ORPHA:3101
Myopathy, Tubular Aggregate, 1
External ophthalmoplegia, Elevated circulating creatine kinase concentration, Weakness of the int... OMIM:160565
Nemaline Myopathy 2
Sternocleidomastoid amyotrophy, Respiratory insufficiency due to muscle weakness, Muscle fiber sp... OMIM:256030
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Gowers sign, Calf muscle hypertrophy, Elevated c... OMIM:613157
Sandhoff Disease, Adult Form
Elevated circulating creatine kinase concentration, Muscle fiber atrophy, Upper limb muscle weakn... ORPHA:309169
Congenital Myasthenic Syndromes With Glycosylation Defect
Poor head control, Fatigable weakness, Ragged-red muscle fibers, Gowers sign, Facial palsy, Scapu... ORPHA:353327
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Neck muscle weakness, Distal amyotrophy, Rimmed vacu... OMIM:619473
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Increased serum pyruvate, Myopathy, Muscle weakness OMIM:545000
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Elevated circulating c... ORPHA:34515
Myopathy, Autophagic Vacuolar, Infantile-Onset
Elevated circulating creatine kinase concentration, Autophagic vacuoles, Myopathy OMIM:609500
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Elevated circulating creatine kinase concentration, Distal muscle weakness, Increased variability... OMIM:620542
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Gowers sign... OMIM:618138
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Gowers sign, Calf muscle pseudohypertrophy, Muscle fi... OMIM:253700
Muscle Filaminopathy
Muscle fiber splitting, Neck flexor weakness, Abnormality of masticatory muscle, Weakness of faci... ORPHA:171445
Nemaline Myopathy 5C, Autosomal Dominant
Poor head control, Type 1 muscle fiber predominance, Gowers sign, Scapular winging, Nemaline bodi... OMIM:620389
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Poor head control, Generalized muscle weakness, Nemaline bodies, Increased variability in muscle ... OMIM:620265
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Increased serum pyruvate, Respiratory insufficiency due to muscle weakn... OMIM:300816
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Elevated circulating creatine kinase concentration, Ophthalmoplegia, Respirat... OMIM:607855
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Distal amyotrophy, Progressive proximal muscle weakness, Facial palsy, Rimmed vacuoles, Scapular ... OMIM:167320
Laing Early-Onset Distal Myopathy
Neck muscle weakness, Progressive muscle weakness, Weakness of orbicularis oculi muscle, EMG: myo... ORPHA:59135
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, EMG: myopathic abnormaliti... OMIM:600334
Dpm3-Cdg
Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Elevated creatine kinase after exer... ORPHA:263494
Oculopharyngodistal Myopathy 4
External ophthalmoplegia, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Ele... OMIM:619790
Muscular Dystrophy, Congenital, Lmna-Related
Proximal upper limb amyotrophy, Poor head control, Muscular dystrophy, Neck muscle weakness, Uppe... OMIM:613205
Multiminicore Myopathy
External ophthalmoplegia, Proximal muscle weakness in upper limbs, Muscular dystrophy, Distal mus... ORPHA:598
Ullrich Congenital Muscular Dystrophy
Diaphragmatic weakness, Torticollis, Generalized muscle weakness, Elbow flexion contracture, EMG:... ORPHA:75840
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Gowers sign, Calf muscle hypertrophy, Triceps weakness, Elevated circulating ... ORPHA:86812
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Respiratory paralysis, Late-onset proximal muscle weak... ORPHA:681
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Diaphragmatic weakness, Fatigable weakness, Generalized muscle weakness, Upper limb muscle weakne... OMIM:601462
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Ankle flexion contracture, Gowers sign, Hypoglycosylation of alpha-dystroglyc... OMIM:613818
Bethlem Muscular Dystrophy
Gowers sign, Progressive proximal muscle weakness, Wrist flexion contracture, Distal muscle weakn... ORPHA:610
Episodic Ataxia, Type 2
Myotonia, Muscle weakness OMIM:108500
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Adult-Onset Nemaline Myopathy
Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn... ORPHA:171442
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Centrally nucleate... OMIM:615422
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... ORPHA:1878
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Neck muscle weakness, Generalized muscle weakness, Bulbar palsy, Gowers sign, Facial palsy, Limb ... OMIM:608930
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Type 1 muscle fiber predominance, Fatty replacement of skeletal muscle, Centrally nucleated skele... OMIM:618823
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber type grouping, Angulat... OMIM:608340
Idiopathic Camptocormia
Fatty replacement of skeletal muscle, Fatigable weakness of skeletal muscles, Myositis, EMG: myop... ORPHA:1320
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Neck muscle weakness, Axial muscle weakness, Increased variability in muscle ... OMIM:617066
Myasthenic Syndrome, Congenital, 5
Neck muscle weakness, Fatigable weakness, Generalized muscle weakness, Limb muscle weakness, Resp... OMIM:603034
Congenital Myopathy 24
Abnormal circulating creatine kinase concentration, Gowers sign, Scapular winging, Facial palsy, ... OMIM:617336
Central Core Disease
Type 1 muscle fiber predominance, Multiple joint contractures, Abnormal circulating creatine kina... ORPHA:597
Myotonic Dystrophy 1
Facial diplegia, Myotonia, Muscle weakness OMIM:160900
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Hypoglycosylation of alph... ORPHA:352479
Congenital Myopathy 2A, Typical, Autosomal Dominant
Late-onset distal muscle weakness, Generalized muscle weakness, Bulbar palsy, Facial palsy, EMG: ... OMIM:161800
Congenital Myopathy With Myasthenic-Like Onset
Type 1 muscle fiber predominance, Fatigable weakness, Scapular winging, EMG: myopathic abnormalit... ORPHA:424107
Congenital Myopathy 3 With Rigid Spine
Poor head control, Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Generaliz... OMIM:602771
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Peroneal muscle weakness, Progressive muscle weakness, Skeletal muscle hypert... OMIM:611588
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Type 1 muscle fiber predominance, Progressive muscle weakness, Shoulder flexion contracture, Nema... OMIM:605355
Congenital Myopathy 10A, Severe Variant
Poor head control, Diaphragmatic weakness, Diaphragmatic paralysis, Facial palsy, EMG: myopathic ... OMIM:614399
Congenital Myopathy 1B, Autosomal Recessive
External ophthalmoplegia, Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Ge... OMIM:255320
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Neck muscle weakness, Increased variability in muscle fiber diameter, Proxima... OMIM:614302
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Generalized muscle weakness, Calf muscle hypertrophy, Elbow flexion contracture, Elevated circula... ORPHA:206546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopa... OMIM:618992
Congenital Myopathy 5 With Cardiomyopathy
Generalized muscle weakness, Calf muscle hypertrophy, Elevated circulating creatine kinase concen... OMIM:611705
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Fatigable weakness of respiratory muscles, Ankle weakness, Abnormality of ma... ORPHA:98913
Amish Nemaline Myopathy
Progressive muscle weakness, Shoulder flexion contracture, EMG: myopathic abnormalities, Hip cont... ORPHA:98902
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Generalized muscle weakness, Inflammatory myopathy, Weakness of facial... ORPHA:1145
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Abnormal circulating creatine kinase concentration, Gowers sign, Increased variability in muscle ... OMIM:618484
Episodic Ataxia Type 1
Calf muscle hypertrophy, Myotonia ORPHA:37612
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Elevated circulating creatine kinase concentration, Li... OMIM:616812
Myopathy, Centronuclear, 2
Gowers sign, Facial palsy, Scapular winging, EMG: myopathic abnormalities, Distal muscle weakness... OMIM:255200
Congenital Multicore Myopathy With External Ophthalmoplegia
Internally nucleated skeletal muscle fibers, External ophthalmoplegia, Muscular dystrophy, Tibial... ORPHA:98905
Schwartz-Jampel Syndrome, Type 1
Flexion contracture of toe, Shoulder flexion contracture, Percussion myotonia, Skeletal muscle hy... OMIM:255800
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Calf muscle hypertrophy, Scapuloperoneal weakness, EMG: myopathic ab... OMIM:255160
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Decreased circulating carnitine concentration, Ragged-red musc... ORPHA:254864
Myopathy, Centronuclear, 5
Weakness of facial musculature, Axial muscle weakness, Centrally nucleated skeletal muscle fibers... OMIM:615959
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Amyotrophic Lateral Sclerosis 27, Juvenile
Progressive muscle weakness, Generalized muscle weakness, Gowers sign, Scapular winging, Intrinsi... OMIM:620285
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform OMIM:302045
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Gowers sign, Facial diplegia, EMG: myopathic abnormalities, Elevated ci... OMIM:609560
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Limb... OMIM:613954
Congenital Myopathy 4A, Autosomal Dominant
Generalized muscle weakness, Bulbar palsy, Facial palsy, Type 1 fibers relatively smaller than ty... OMIM:255310
Myopathy, Myofibrillar, 8
Neck muscle weakness, Joint contracture of the 5th finger, Central core regions in muscle fibers,... OMIM:617258
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Progressive muscle weakness, Elevated circulating creatine kinase conce... OMIM:619024
Congenital Myopathy 20
Gowers sign, Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in ... OMIM:620310
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Poor head control, Neck muscle weakness, EMG: myopathic abnormalities, Limb muscle weakness, Incr... ORPHA:486815
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Increased serum pyruvate, Muscle weakness OMIM:616794
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Neck muscle weakness, Fatigable weakness of bulbar muscles, Faci... ORPHA:171439
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Hyperammonemia, Rha... OMIM:618416
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Muscular dystrophy, Muscle mounding, Generalized muscle weakness, Skeletal ... OMIM:613327
Spastic Paraplegia 79B, Autosomal Recessive
Flexion contracture, Myotonia, Ophthalmoparesis OMIM:615491
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Fatigable weakness, Gowers sign, Facial palsy, Respiratory insufficiency due to muscle weakness, ... OMIM:608931
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Bulbar palsy, Rimmed vacuoles, Elevated circulating creatine k... OMIM:606070
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, EMG: myopathic abnormalities, Elevated creatine kinase after exercise, Skeletal myo... ORPHA:57
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Gowers sign, Facial palsy, Elevated circulating creatine kinase concentration... OMIM:602541
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Fatigable weakness, Bulbar palsy, Limb muscle weakness, Respiratory insufficiency due to muscle w... OMIM:605809
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Mildly elevated creatine kinase, Increased variability in ... ORPHA:401768
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Poor head control, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal amyotrophy, Fac... OMIM:617519
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Distal lower limb muscle weakness, Thenar muscle atrophy, Fiber type ... OMIM:619903
Adult-Onset Distal Myopathy Due To Vcp Mutation
Abnormality of the musculature of the lower limbs, Necrotizing myopathy, Rimmed vacuoles, Facial ... ORPHA:329478
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, EMG: myopathic abnormalities, Mildly elevated creatine kina... ORPHA:397744
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Poor head control, Increased circulating creatine kinase MM isoform, Increased variability in mus... OMIM:613752
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Plantar flexion contracture, Diaphragmatic paralysis, Distal muscle weakness, Fiber type grouping... OMIM:620011
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion contracture, Facial... OMIM:617114
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance, Elevated circulating creatine ... ORPHA:972
Myasthenic Syndrome, Congenital, 6, Presynaptic
Fatigable weakness, Bulbar palsy, Respiratory insufficiency due to muscle weakness, Arthrogryposi... OMIM:254210
Intermediate Nemaline Myopathy
Generalized muscle weakness, Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemalin... ORPHA:171433
Cap Myopathy
Poor head control, Lower limb amyotrophy, Gowers sign, Facial palsy, Increased variability in mus... ORPHA:171881
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Elevated circulating cre... OMIM:123320
Vocal Cord And Pharyngeal Distal Myopathy
Ankle weakness, Bulbar palsy, Distal upper limb amyotrophy, Rimmed vacuoles, Mildly elevated crea... ORPHA:600
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Congenital-Onset Steinert Myotonic Dystrophy
Myotonia, Facial hypotonia ORPHA:589821
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Diaphragmatic weakness, Peroneal muscle weakness, Torticollis, Amyoplasia... OMIM:181405
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Gowers sign, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Increas... ORPHA:119
Congenital Myopathy 15
Camptodactyly, Increased variability in muscle fiber diameter, Muscle weakness, Weakness of facia... OMIM:620161
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Percussion myotonia, Elbow contracture, Nemaline bodies OMIM:620275
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Res... OMIM:300580
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Abnormal circulating creatine kinase concentration, Muscle fiber atrophy, Pro... ORPHA:369840
Immune-Mediated Necrotizing Myopathy
Myositis, Scapular winging, EMG: myopathic abnormalities, Muscle fiber necrosis, Elevated circula... ORPHA:206569
Autosomal Recessive Progressive External Ophthalmoplegia
External ophthalmoplegia, Ragged-red muscle fibers, Facial palsy, Scapular winging, Elevated circ... ORPHA:254886
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Progressive muscle weakness, Rimmed vacuoles, Elevated circulating creatine kinase concentration,... OMIM:619518
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,... OMIM:254090
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Progressive muscle weakness, Elevated circulating creatine kinase concentration, Increased variab... OMIM:151800
Autosomal Recessive Centronuclear Myopathy
Progressive muscle weakness, Gowers sign, Facial diplegia, Facial palsy, Scapular winging, Genera... ORPHA:169186
X-Linked Centronuclear Myopathy
Fatigable weakness of bulbar muscles, Necklace skeletal muscle fibers, Type 1 fibers relatively s... ORPHA:596
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Ragged-red muscle fibers, Lower limb muscle weakness, Elevated circulating creatine kinase concen... OMIM:616479
Classic Multiminicore Myopathy
Poor head control, Muscular dystrophy, Axial muscle weakness, Generalized amyotrophy, Muscle fibe... ORPHA:324604
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression, Decreased circulating ferritin concentration ORPHA:330054
Typical Nemaline Myopathy
Fatigable weakness of respiratory muscles, Facial diplegia, Facial palsy, Elevated circulating cr... ORPHA:171436
Steinert Myotonic Dystrophy
Handgrip myotonia, Myotonia of the upper limb, Facial diplegia, Distal muscle weakness, Myotonia ... ORPHA:273
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Facial palsy, EMG: ... OMIM:258450
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external ophthalmoplegia ORPHA:480
Genetic Recurrent Myoglobinuria
Hyperkalemia, Proximal muscle weakness in upper limbs, Abnormality of jaw muscles, Neck muscle we... ORPHA:99845
Autosomal Dominant Centronuclear Myopathy
External ophthalmoplegia, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Abnor... ORPHA:169189
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, Hyperalaninemia, EMG: myopathic abnormalities, Elevated circulating cre... OMIM:615418
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Generalized muscle weakness, Musc... OMIM:613662
Schwartz-Jampel Syndrome
Flexion contracture of toe, Shoulder flexion contracture, Skeletal muscle hypertrophy, Wrist flex... ORPHA:800
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Axial muscle weakness, Flexion contracture, Minicore myopathy, Arthrogryposis multiplex congenita... ORPHA:178148
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co... ORPHA:228302
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Ophthalmoplegia, Increased intr... OMIM:252011
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy, Respiratory insufficiency due to muscle weaknes... OMIM:613561
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Rimmed vacuoles, EMG: myopathic abnormalities, Elevated cir... ORPHA:52430
King-Denborough Syndrome
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, M... OMIM:619542
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Congenital Myopathy 22A, Classic
External ophthalmoplegia, Generalized muscle weakness, Ragged-red muscle fibers, Gowers sign, Sca... OMIM:620351
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Increased serum pyruvate, Progressive external ophthalmoplegia, Muscle ... ORPHA:1349
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Elbow flexion contracture, Camptodactyly, Myotonia, Knee flexion cont... OMIM:601559
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Progressive externa... ORPHA:352447
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Ophthalmoparesis OMIM:500003
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Facial palsy, Elevated circulating creatine kinase concentration, Progr... OMIM:615084
Marinesco-Sjogren Syndrome
Progressive muscle weakness, Rimmed vacuoles, Elevated circulating creatine kinase concentration,... OMIM:248800
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Handgrip myotonia, Facial hypotonia ORPHA:438216
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Generalized limb muscle atrophy, Neck muscle weakness, Abnormal circulating... ORPHA:98908
Oculopharyngodistal Myopathy 1
External ophthalmoplegia, Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic vacuoles, ... OMIM:164310
Ullrich Congenital Muscular Dystrophy 2
Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac... OMIM:616470
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Lower limb hypertonia, Ophthalmoparesis OMIM:610246
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Triceps weakness, Distal muscle weakness, First dorsal interossei muscle weakness, Centrally nucl... OMIM:619574
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Lower limb hypertonia, Upper limb muscle weakness, Lower limb muscle we... ORPHA:99013
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Ophthalmoplegia, Myopathy, Left ventricular hypertrophy OMIM:540000
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Progressive muscle weakness, Ragged-red muscle fibers, Gowers si... OMIM:600462
Danon Disease
Lower limb amyotrophy, Myocardial necrosis, EMG: myopathic abnormalities, Elevated circulating cr... OMIM:300257
Combined Oxidative Phosphorylation Deficiency 24
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Skeletal muscle atr... OMIM:616239
Synaptic Congenital Myasthenic Syndromes
Poor head control, Neck muscle weakness, Generalized muscle weakness, Facial palsy, Scapular wing... ORPHA:98915
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
External ophthalmoplegia, Generalized muscle weakness, Weakness of facial musculature, Ragged-red... OMIM:607459
Myopathy With Lactic Acidosis, Hereditary
Elevated circulating creatine kinase concentration, Distal muscle weakness, Increased variability... OMIM:255125
Myasthenic Syndrome, Congenital, 19
Poor head control, Bulbar palsy, Facial palsy, Distal muscle weakness, Axial muscle weakness, Inc... OMIM:616720
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Progressive muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities... OMIM:157640
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive muscle weakness, Ragged-red muscle fibers, EMG: myopathic abnormalities, Progressive ... OMIM:609286
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness, Proximal amyotrophy, Mildly elevated creatine kinase, Type 2 muscle fiber atr... OMIM:159400
Congenital Myasthenic Syndrome
Poor head control, Distal lower limb muscle weakness, Neck muscle weakness, Fatigable weakness, G... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Poor head control, Distal lower limb muscle weakness, Neck muscle weakness, Fatigable weakness, G... ORPHA:98914
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, Scapular winging, Muscle weakness OMIM:613507
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy, Hypocalcemia, Muscle weakness OMIM:606407
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Ge... OMIM:616866
Mitochondrial Neurogastrointestinal Encephalomyopathy
External ophthalmoplegia, Ragged-red muscle fibers, Hyperalaninemia, Distal muscle weakness, Decr... ORPHA:298
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Respiratory paralysis, Late-onset proximal muscle weakn... ORPHA:79102
Juvenile Amyotrophic Lateral Sclerosis
Retrocollis, Lower-limb joint contracture, Distal amyotrophy, Distal muscle weakness, Upper-limb ... ORPHA:300605
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Abnormality of skeletal muscle fiber size, Generalized muscle weakness, Nemaline bodies, Joint co... OMIM:620278
Narcolepsy 3
Narcolepsy OMIM:609039
Glycogen Storage Disease Vii
Increased muscle glycogen content, Hyperuricemia, Elevated circulating creatine kinase concentrat... OMIM:232800
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Elevated circulating creatine kinase concentration, Muscle fiber atrophy, Flexion contracture OMIM:620240
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy, Ophthalmoparesis ORPHA:3068
Narcolepsy 1
Narcolepsy OMIM:161400
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand OMIM:175700
Snakebite Envenomation
Hyponatremia, Rhabdomyolysis, Muscle fiber necrosis, Respiratory paralysis ORPHA:449285
Overlap Myositis
Abnormal circulating lipid concentration, Proximal muscle weakness in upper limbs, Distal lower l... ORPHA:206572
Congenital Fiber-Type Disproportion Myopathy
Poor head control, Ankle flexion contracture, Pelvic girdle muscle weakness, Progressive muscle w... ORPHA:2020
Narcolepsy 7
Narcolepsy OMIM:614250
Glycogen Storage Disease Xii
Muscle fiber splitting, Reduced haptoglobin level, Hyperbilirubinemia, Elevated circulating creat... OMIM:611881
Lethal Congenital Contracture Syndrome 5
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... OMIM:615368
Neuromuscular Oculoauditory Syndrome
Poor head control, Calf muscle hypertrophy, EMG: myopathic abnormalities, Wrist flexion contractu... OMIM:618733
Polymyositis
Proximal muscle weakness, Abnormal muscle fiber morphology, Elevated circulating creatine kinase ... ORPHA:732
Ehlers-Danlos Syndrome, Classic-Like, 1
Proximal muscle weakness, Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Proximal muscle weakness, Increased variability in muscle fiber diameter, Ragged-red muscle fiber... ORPHA:70595
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Hyperuricemia, Skeletal muscle h... ORPHA:79083
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Progressive muscle weakness, Elevated circulating creatine kinase conce... OMIM:607426
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Narcolepsy OMIM:604121
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Myositis, Facial palsy, Muscle fiber atrophy, Flexion contracture, Absent mus... ORPHA:258
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Muscle weakness OMIM:530000
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Myo... ORPHA:2348
Autosomal Dominant Progressive External Ophthalmoplegia
Hypomimic face, External ophthalmoplegia, Ragged-red muscle fibers, Facial diplegia, Facial palsy... ORPHA:254892
Native American Myopathy
Abnormality of skeletal muscle fiber size, Camptodactyly, Congenital contracture, Muscle fiber at... ORPHA:168572
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Poor head control, Ophthalmoplegia, Elevated circulating alpha-fetoprot... OMIM:614924
Combined Oxidative Phosphorylation Deficiency 58
Ragged-red muscle fibers, Hyperalaninemia, Muscle weakness, Hyperprolinemia, Ophthalmoparesis OMIM:620451
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ragged-red muscle fibers, Distal amyotrophy, Progressive external ophthalmoplegia, Distal muscle ... OMIM:603041
Lethal Congenital Contracture Syndrome 9
Abnormality of the diaphragm, Wrist flexion contracture, Congenital contracture, Arthrogryposis m... OMIM:616503
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Generalized muscle weakness, Elbow flexion contracture, EMG: myopathic abnormalities, Limb muscle... ORPHA:1900
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Optic atrophy, Narcolepsy ORPHA:314404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Muscular dystrophy, Increased endomysial conn... OMIM:613154
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Hyperlipidemia, Elevated circulating creatine kinase concentration, Abnormality ... ORPHA:565612
Mitochondrial Complex I Deficiency, Nuclear Type 1
Poor head control, Ragged-red muscle fibers, Hyperalaninemia, Skeletal muscle atrophy, Muscle wea... OMIM:252010
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers, Hyperalaninemia, Muscle weakness, Low plasma citrulline, Ophthalmoparesis ORPHA:255210
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Ragged-red muscle fibers, Increased variability in muscle fiber diameter,... ORPHA:17
Melas
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Progressive external ophthalmop... ORPHA:550
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Hypertyrosinemia, Rhabdomyolysis, Muscle weakness OMIM:124000
Choreoacanthocytosis
Distal amyotrophy, Elevated circulating creatine kinase concentration, Distal muscle weakness, Mu... ORPHA:2388
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy ORPHA:293987
Niemann-Pick Disease Type C
Narcolepsy ORPHA:646
African Trypanosomiasis
Optic neuritis, Papilledema, Narcolepsy ORPHA:3385
Singleton-Merten Syndrome 1
Tendon rupture, Muscle fiber atrophy, Muscle weakness OMIM:182250

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Limch1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Limch1.

No publications found that use IMPC mice or data for Limch1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Limch1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Limch1tm46051(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Limch1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Limch1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter