Alex Vicino1,2, Raffaella Brugnoni1, Lorenzo Maggi1

  • 1Neurology IV Unit, Neuroimmunology and Neuromuscular Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

概括

骨肌肉通道病 (SMCs) 涉及影响肌肉刺激性的遗传突变,导致肌或偶发性弱点. 诊断需要一个结构化的方法,包括临床数据,神经生理学和基因测试,以获得准确的基因型-表型相关性.

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