Respiratory features of centronuclear myopathy in the Netherlands

Centronuclear myopathies (CNMs) are a group of inherited neuromuscular disorders which are histopathologically characterized by the presence of nuclei in the center of muscle cells [1]. CNM is clinically and genetically heterogenous, mainly caused by mutations in MTM1, DNM2, RYR1, TTN, and BIN1 [2 –5]. The majority of the corresponding proteins are involved in membrane trafficking and the formation of structures crucial for excitation-contraction coupling, and are thus essential for normal muscle function [6].

Source: Neuromuscular Disorders - June 11, 2023 Category: Neurology Authors: Sietse Bouma, Nicolle Cobben, Karlijn Bouman, Michael Gaytant, Ries van de Biggelaar, Jeroen van Doorn, Stacha F.I. Reumers, Nicoline BM Voet, Jonne Doorduin, Corrie E. Erasmus, Erik-Jan Kamsteeg, Heinz Jungbluth, Peter Wijkstra, Nicol C. Voermans Tags: Research paper Source Type: research