Disease: Myopathy, Myofibrillar, 2

Name Myopathy, Myofibrillar, 2

Synonyms ALPHA-B CRYSTALLINOPATHY , MYOPATHY, DESMIN-RELATED, ASSOCIATED WITH MUTATION IN THE CRYAB GENE , MYOPATHY, MYOFIBRILLAR, ALPHA-B CRYSTALLIN-RELATED , MYOPATHY, MYOFIBRILLAR, WITH OR WITHOUT CATARACT AND/OR CARDIOMYOPATHY

Classification cardiac, genetic, neurological

Phenotypes Adult onset; Autophagic vacuoles; Autosomal dominant inheritance; Cataract; Decreased Achilles reflex; Distal muscle weakness; EMG: myopathic abnormalities; Elevated serum creatine kinase; Foot dorsiflexor weakness; Hypertrophic cardiomyopathy; Late-onset proximal muscle weakness; Limb-girdle muscle weakness; Muscle fiber splitting; Muscular dystrophy; Neck muscle weakness; Respiratory insufficiency due to muscle weakness; Slow progression

Associated Genes CRYAB (Withdrawn symbols: CRYA2, HSPB5 )

Mouse Orthologs Cryab (Withdrawn symbols: Crya-2, Crya2 )

Source OMIM:608810 (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

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