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Publication details
Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy
Authors | |
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Year of publication | 2007 |
Type | Article in Periodical |
Magazine / Source | European Journal of Neurology |
MU Faculty or unit | |
Citation | |
Field | Genetics and molecular biology |
Keywords | Charcot-Marie Tooth neuropathy; Duchenne muscular dystrophy |
Description | We report a 24-year-old male with an unusual combination of two inherited neuromuscular disorders: CMT disease type 1A and DMD. A phenotypic presentation of this patient included features of both these disorders and two independent mutations were detected. The combination of CMT1A and DMD has not been reported as yet. |
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