Article
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.
Journal of neuromuscular diseases - 1 May 2026
Labella Beatrice, Brochier Guy, Beuvin Maud, Lacene Emmanuelle, Chanut Anais, Madelaine Angeline, Labasse Clemence, Méneret Aurelie, Roos Andreas, Kölbel Heike, Levine Adrian, Yoon Grace, Svahn Juliette, Bouhour Francoise, Streichenberger Natalie, Nadaj-Pakleza Aleksandra, Malfatti Edoardo, Bassez Guillaume, Behin Anthony, Laforet Pascal, Villar-Quiles Rocio Nur, Leonard-Louis Sarah, Maisonobe Thierry, Stojkovic Tanya, Eymard Bruno, Romero Norma Beatriz, Padovani Alessandro, Filosto Massimiliano, Cassandrini Denise, Biancalana Valerie, Rendu John, Polavarapu Kiran, Métay Corinne, Evangelista Teresinha
Abstract excerpt
Pathogenic variants in the MYH2 gene are associated with congenital myopathy. We report 13 unrelated patients and a systematic review of published cases through 30 October 2024, supplemented by HGMD Pro (2024.2) and LOVD (https://www.lovd.nl/) databases. In the case series, most patients (n = 11/13, 84.6%) exhibited clinical symptoms from early childhood to middle adulthood. The mean age of onset was 22.8 years...
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