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 | Charcot-Maria-Tooth disease; CMTX1; connexin 32; gap junction protein beta 1; hereditary motor and sensory neuropathy; X-linked |
Description | The family with X-linked Charcot-Maria-Tooth disease in which the novel mutation Ile 127Ser in the GJB1 (connexin 32) gene is presented. |