Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.

Abstract excerpt

Charcot-Marie-Tooth disease is a genetically heterogeneous group of neuropathies. In the demyelinating form of Charcot-Marie-Tooth disease with dominant inheritance, five genes have been incriminated: PMP22, MPZ, LITAF/SIMPLE, EGR2 (CMT1A to D), and GJB1 (CMTX). Here, we report clinical, electrophysiological and molecular genetic studies in a family with a Charcot-Marie-Tooth disease variable phenotype, ranging...

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