Publication details
X-linked Charcot-Marie-Tooth Disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene
| Authors | |
|---|---|
| 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. |