Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review
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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 th... ...
