TPM3-related myopathy
Findings
No curated finding names TPM3-related myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0100108), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TPM3HGNC:12012
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal dominant · 2024
Where it sits
Other names
2 names
Resolves to: TPM3-related myopathy
- Also called
- congenital myopathy related to TPM3TPM3 myopathy