DISEASES

Disease-gene associations mined from literature

Human genes for myofibrillar myopathy 3

Myofibrillar myopathy 3 [DOID:0080094]

A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the TTID gene on chromosome 5q31.

Synonyms:  myofibrillar myopathy 3,  DOID:0080094,  autosomal dominant limb-girdle muscular dystrophy type 1A,  myotilinopathy,  autosomal dominant limbgirdle muscular dystrophy type 1A ...