Article
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).
Human mutation - 1 Sept 2022
Holling Tess, Lisfeld Jasmin, Johannsen Jessika, Matschke Jakob, Song Feizhi, Altmeppen Hermann Clemens, Kutsche Kerstin
Abstract excerpt
Nemaline myopathies (NEMs) are genetically and clinically heterogenous. Biallelic or monoallelic variants in TNNT1, encoding slow skeletal troponin T1 (TnT1), cause NEM. We report a 2-year-old patient and his mother carrying the heterozygous TNNT1 variant c.194A>C/p.(Asp65Ala) that occurred de novo in the mother. Both had muscle hypotrophy and muscle weakness. Muscle pathology in the proband's mother revealed...
Topics
- Child, Preschool
- Humans
- Muscle, Skeletal
- Mutation
- Myopathies, Nemaline
- Protein Isoforms
- Troponin T