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 ...