Article
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings.
Neuromuscular disorders : NMD - 1 Mar 2022
Zambon Alberto A, Abel François, Linnane Barry, O'Rourke Declan, Phadke Rahul, Sewry Caroline A, Sarkozy Anna, Manzur Adnan, Muntoni Francesco
Abstract excerpt
Biallelic pathogenic variants in the troponin T type 1 (TNNT1) gene cause a severe form of congenital nemaline myopathy. Typical features include severe motor delay, proximal contractures and weakness, pectus carinatum, chest wall rigidity and tremor. If left untreated, respiratory failure leads to early death at a median age of 18 months. Here we report on three non-Amish, unrelated patients harbouring novel...
Topics
- Humans
- Muscle, Skeletal
- Muscles
- Mutation
- Myopathies, Nemaline
- Phenotype
- Troponin T