Disease association ontology term - MONDO:0100108 - TPM3-related myopathy
Term summary
- ID
- MONDO:0100108
- Name
- TPM3-related myopathy
- Ontology or CV name
- Disease association
- Definition
- TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.
