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过度自 (XMEA) 的X结合肌病患者的临床,形态和分子特征

Angèle N Merlet1,2, Emmanuelle Lacène3, Isabelle Nelson4

  • 1Myology Unit, Reference Center for Neuromuscular Diseases, Euro-NMD, Department of Clinical Physiology and Exercice, University Hospital of Saint-Etienne, Saint-Priest-en-Jarez, France.

Journal of neuropathology and experimental neurology
|November 27, 2025
PubMed
概括

过度自的X关联肌病 (XMEA) 是男性罕见的遗传性疾病. 这项研究发现了一种新的VMA21突变,并扩展了XMEA已知的临床特征,包括成人发病例.

关键词:
在VMA2121中使用.有过度自的X关联肌病症.这就是XMEA.自杀性真空小胞肌病症 自杀性真空小胞肌病症蛋白质小组的保护性这是骨肌肉的骨架肌肉.超结构的超结构.

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