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Article

Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families

1 Nov 1998

Abstract excerpt

OBJECTIVE: To devise a neurophysiologic strategy to select X-linked Charcot-Marie-Tooth neuropathy syndrome (CMTX) families for connexin 32 mutation screening. BACKGROUND: Once the common chromosome 17 DNA duplication (CMT1A syndrome) has been excluded, clinical features are not sufficiently distinctive to select which of three genes (PMP22, Po, or connexin 32) should be screened for mutations. DESIGN: The yield...

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PMID: 9818870
DOI: 10.1212/wnl.51.5.1412

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