TPM2-related myopathy
Findings
No curated finding names TPM2-related myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.
Definition from the Mondo Disease Ontology (MONDO:0100196), 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.
- TPM2HGNC:12011
- Definitive · ClinGen · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: TPM2-related myopathy
- Also called
- autosomal dominant TPM2-related myopathycongenital myopathy related to TPM2TPM2 myopathy