Term Name:	myofibrillar myopathy 1
Synonyms:	autosomal recessive limb-girdle muscular dystrophy type 2R, desminopathy
Definition:	A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.
Ontology:	Human Disease [DOID:0080092]   ( DOID:0080092 )