Article
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Neurology - 29 Aug 2017
Panosyan Francis B, Laura Matilde, Rossor Alexander M, Pisciotta Chiara, Piscosquito Giuseppe, Burns Joshua, Li Jun, Yum Sabrina W, Lewis Richard A, Day John, Horvath Rita, Herrmann David N, Shy Michael E, Pareyson Davide, Reilly Mary M, Scherer Steven S
Abstract excerpt
OBJECTIVE: To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships. METHODS: Mutations in GJB1 cause the main X-linked form of CMTX (CMTX1). We report cross-sectional data from 160 patients (from 120 different families, with 89 different mutations) seen at the Inherited Neuropathies Consortium centers. RESULTS: We evaluated 87 males who had a...
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