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Metadata
ID DOID:0080093
Name adult-onset myofibrillar myopathy 2A
Definition A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.
https://pubmed.ncbi.nlm.nih.gov/14681890/
Xrefs

MIM:608810

ORDO:399058

Subsets

DO_rare_slim

Synonyms

alpha-b crystallinopathy [EXACT]

myofibrillar myopathy 2 [EXACT]

Parent Relationships

is_a myofibrillar myopathy

is_a autosomal dominant disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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