Publication details
X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene
Authors | |
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Year of publication | 2005 |
Type | Article in Periodical |
Magazine / Source | Muscle Nerve |
MU Faculty or unit | |
Citation | |
Field | Neurology, neurosurgery, neurosciences |
Keywords | X-linked Charcot-Marie-Tooth disease; Ile127Ser mutation; GJB1 gene |
Description | We report a family with X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Three affected family members are described, who underwent detailed clinical, electrophysiological, molecular genetic, and histopathological studies. A novel isoleucine at position 127 with serine (Ile127Ser) mutation in the gap junction protein beta 1 (GJB1) gene was detected. |
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