Term Name: | tibial muscular dystrophy |
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Synonyms: | distal titinopathy, Finnish tibial muscular dystrophy, Tardive tibial muscular dystrophy, TMD, Udd myopathy, Udd type distal myopathy |
Definition: | A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. |
Ontology: | Human Disease [DOID:0111078] ( DOID:0111078 ) |