Term Name: adult-onset myofibrillar myopathy 2A
Synonyms: alpha-b crystallinopathy, myofibrillar myopathy 2
Definition: A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.
Ontology: Human Disease [DOID:0080093]   ( DOID:0080093 )

Relationships
is a type of: autosomal dominant disease myofibrillar myopathy