| 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 |