Congenital myopathies – nemaline myopathies

The TNNT1 gene encodes troponin T type 1, expressed in type I skeletal myofibers. Recessive null mutations in TNNT1 are a rare cause of nemaline myopathy (MIM#605355) which leads to death during infancy due to respiratory failure. Recently, a milder phenotype has been described in 3 adults and 1 child that shared a missense homozygous variant in TNNT1. They developed very slowly progressive limb-girdle weakness, rigid spine, contractures and restrictive lung disease. Here we report an adult patient with a nemaline myopathy due to a novel homozygous causal variant in TNNT1.

Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: C. Fuenmayor-Fern ández de la Hoz, A. Hernández-Laín, A. Arteche López, A. Hernández Voth, M. Olivé, C. Domínguez-González Source Type: research