A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation

Nemaline myopathies (NEM) represent a heterogeneous group of congenital myopathies, characterized by skeletal muscle hypotonia and respiratory distress. Histomorphologically, NEMs are defined by the presence of sarcoplasmic rod-like inclusions (rods, or nemaline bodies) in muscle fibres that can be visualised using modified G ömöri trichrome staining [1]. They are composed of Z-disc proteins, such as alpha-actinin, filamin, telethonin, myopalladin, myotilin and myozenin [2]. Ultrastructurally, nemaline bodies appear electron dense, may show structural continuity with Z-discs, have a similar lattice structure, and there fore are thought to derive from these structures [2, 3].

Source: Neuromuscular Disorders - December 5, 2020 Category: Neurology Authors: Maria L. Rocha, Carsten Dittmayer, Akinori Uruha, Dirk Korinth, Rabih Chaoui, Dietmar Schlembach, Rainer Rossi, Katarina Pelin, Eun Kyung Suk, Simone Schmid, Hans H. Goebel, Markus Schuelke, Werner Stenzel, Benjamin Englert Source Type: research