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Article

Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease

1 Feb 2000

Abstract excerpt

X-linked Charcot-Marie-Tooth disease (CMTX) is the second most common form of Charcot-Marie-Tooth disease. Variable histopathological and nerve conduction velocity (NCV) results have suggested either a primary demyelinating or axonal polyneuropathy. We identified five individuals across three generations in a family with CMTX associated with a mutation in the gene coding for connexin 32. All individuals were...

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PMID: 10639608
DOI: 10.1002/(sici)1097-4598(200002)23:2<182::aid-mus6>3.0.co;2-w

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