DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for tibial muscular dystrophy

Tibial muscular dystrophy [DOID:0111078]

A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31.

Synonyms:  tibial muscular dystrophy,  DOID:0111078,  tibial muscular dystrophies,  Finnish tibial muscular dystrophy,  TMD ...