SH3TC2,仿SH3TC2

Rodrigo Siqueira Soares Frezatti1, Pedro José Tomaselli1,2, Manoella Guerra de Albuquerque Bueno1

  • 1Department of Neurosciences and Behavioural Sciences, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

概括

双性SH3TC2变异导致Charcot-Marie-Tooth型4C (CMT4C),通常被误诊为炎症性神经病变,原因是神经传导不均减缓. 早期识别这种模式对于准确的诊断和治疗至关重要.

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