Term Name: | myofibrillar myopathy 3 |
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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 ) |