先天性肌病（CMYOs）不断拓宽的遗传和肌病学谱：一项叙述性综述
The widening genetic and myopathologic spectrum of congenital myopathies (CMYOs): a narrative review.
作者信息
Onnée Marion, Malfatti Edoardo
机构信息
Institut Mondor de Recherche Biomédicale, Université Paris Est Créteil, Institut National de la Santé et de la Recherche Médicale U955, 94010 Créteil, France.
Institut Mondor de Recherche Biomédicale, Université Paris Est Créteil, Institut National de la Santé et de la Recherche Médicale U955, 94010 Créteil, France; Assistance Publique-Hôpitaux de Paris, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Filnemus, Hôpital Henri Mondor, 94010 Créteil, France; European Reference Center for Neuromuscular Disorders, EURO-NMD, France.
出版信息
Neuromuscul Disord. 2025 Apr;49:105338. doi: 10.1016/j.nmd.2025.105338. Epub 2025 Mar 7.
Congenital myopathies (CMYOs) represent a genetically and clinically heterogeneous group of disorders characterized by early-onset muscle weakness and distinct myopathologic features. The advent of next-generation sequencing (NGS) has accelerated the identification of causative genes, leading to the discovery of novel CMYOs and thereby challenging the traditional classification. In this comprehensive review, we focus on the clinical, myopathologic, molecular and pathophysiological features of 33 newly identified CMYOs.
先天性肌病（CMYOs）是一组在遗传和临床方面具有异质性的疾病，其特征为早发性肌无力和独特的肌病理特征。新一代测序（NGS）技术的出现加速了致病基因的鉴定，从而发现了新型先天性肌病，对传统分类提出了挑战。在这篇全面综述中，我们聚焦于33种新发现的先天性肌病的临床、肌病理、分子和病理生理特征。
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