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GTR Home > Conditions/Phenotypes > Myofibrillar myopathy 2

Myofibrillar myopathy 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
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts. There is phenotypic variability both within and between families (Fardeau et al., 1978; Selcen and Engel, 2003). A homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar myopathy; see 613869. For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). [from OMIM]

Available tests

53 tests are in the database for this condition.

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Clinical tests (53 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD1II, CRYA2, CTPP2, CTRCT16, HEL-S-101, HSPB5, MFM2, CRYAB
    Summary: crystallin alpha B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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