Name
Congenital Myopathy 1B, Autosomal Recessive
Synonmys
MINICORE MYOPATHY ,
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA ,
MULTICORE MYOPATHY ,
MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA ,
MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA ,
MULTIMINICORE MYOPATHY
Classification
genetic,
neurological
Associated Genes
RYR1
(Withdrawn symbols:
CCO,
MHS,
MHS1,
PPP1R137,
RYR
)
Mouse Orthologs
Ryr1
(Withdrawn symbols:
AI528790,
Ryr
)
Source
OMIM:255320 (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)