Article
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Clinical genetics - 1 Dec 2021
Reumers Stacha F I, Erasmus Corrie E, Bouman Karlijn, Pennings Maartje, Schouten Meyke, Kusters Benno, Duijkers Floor A M, van der Kooi Anneke, Jaeger Bregje, Verschuuren-Bemelmans Corien C, Faber Catharina G, van Engelen Baziel G, Kamsteeg Erik-Jan, Jungbluth Heinz, Voermans Nicol C
Abstract excerpt
Centronuclear myopathy (CNM) is a genetically heterogeneous congenital myopathy characterized by muscle weakness, atrophy, and variable degrees of cardiorespiratory involvement. The clinical severity is largely explained by genotype (DNM2, MTM1, RYR1, BIN1, TTN, and other rarer genetic backgrounds), specific mutation(s), and age of the patient. The histopathological hallmark of CNM is the presence of internal...
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