SYT2:

Pedro Nogueira Fontana1, Carolina da Cunha Correia1, Ana Marina Dutra Ferreira da Silva2

  • 1Department of Neurology, Hospital Universitário Oswaldo Cruz, Universidade de Pernambuco, Recife, PE, Brazil; and.

概括

与Synaptotagmin-2相关的疾病,是一种罕见的神经肌肉疾病,表现为肌肉缩和足部形. 本综述详细介绍了其临床,电生理学和病理学特征,包括一种新的SYT2基因变异.

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