作为CMT1H的表现特征,神经受影响与双流,由复发的FBLN5变体引起

Georgios Koutsis1, Zoi Kontogeorgiou1, Charalampos Tzempetzis1

  • 1Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian Universtiy of Athens, Athens, Greece.

概括

本病例报告详细介绍了Charcot-Marie-Tooth型1H (CMT1H) 病例,该病例发生在一个脑神经受损的患者身上,这是一种以前未报告的症状. 这一发现扩大了已知的FBLN5相关CMT1H的临床表现.

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