Disease: Myopathy, Myofibrillar, 9, With Early Respiratory Failure

Name Myopathy, Myofibrillar, 9, With Early Respiratory Failure

Synonyms EDSTROM MYOPATHY , HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF , MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT , MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; MPRM

Classification genetic, neurological

Phenotypes Adult onset; Autosomal dominant inheritance; Calf muscle hypertrophy; Diaphragmatic weakness; Difficulty walking; Elevated serum creatine kinase; Foot dorsiflexor weakness; Frequent falls; Increased variability in muscle fiber diameter; Muscle fiber splitting; Myofibrillar myopathy; Neck flexor weakness; Nocturnal hypoventilation; Pelvic girdle muscle weakness; Proximal muscle weakness; Quadriceps muscle weakness; Reduced vital capacity; Respiratory failure; Rimmed vacuoles; Shoulder girdle muscle weakness; Slow progression; Variable expressivity

Associated Genes TTN (Withdrawn symbols: CMD1G, CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD )

Mouse Orthologs Ttn (Withdrawn symbols: 1100001C23Rik, 2310036G12Rik, 2310057K23Rik, 2310074I15Rik, AF006999, AV006427, D330041I19Rik, D830007G01Rik, mdm, shru )

Source OMIM:603689 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

The IMPC Newsletter

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

Subscribe to newsletter