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 | |
Subsets |
DO_rare_slim |
Synonyms |
alpha-b crystallinopathy [EXACT] myofibrillar myopathy 2 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |