Term Name: myofibrillar myopathy 3
Synonyms: autosomal dominant limb-girdle muscular dystrophy type 1A, LGMD 1A, LGMD1A, myotilinopathy, spheroid body myopathy
Definition: A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31.
Ontology: Human Disease [DOID:0080094]   ( DOID:0080094 )

Relationships
is a type of: autosomal dominant disease myofibrillar myopathy