Congenital myopathies 1 – nemaline

Nemaline myopathy is one of the most common congenital myopathies. The hallmarks of this disorder are early onset muscular weakness, hypotonia, pectus carinatum and rod-like inclusions in muscle cells. The severity spectrum of nemaline myopathy is broad, but early respiratory failure and death are the inevitable outcomes in most of the cases. Several gene mutations have been identified in nemaline myopathy, including a non-sense mutation in exon 11 of TNNT1 gene, encoding for the slow skeletal muscle isoform of troponin T (TnT), which results in selective atrophy of slow-twitch (type I) myofibers and in a unique form of Nemaline myopathy, named Amish Nemaline Myopathy (ANM).

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: E. D'Ambrosio, M. Sena-Esteves, H. GrayEdwards, M. Otero Source Type: research