Name
Myopathy, Myofibrillar, 2
Synonmys
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
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(Withdrawn symbols: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(Withdrawn symbols: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)
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)