Mapping of the gene for X-linked dominant Charcot-Marie-Tooth neuropathy.

Abstract:

:We performed a clinical study and linkage analysis on 278 subjects (66 affected) belonging to eight families with X-linked dominant Charcot-Marie-Tooth (CMT) neuropathy. This form affects 11.8% of CMT patients in Iowa. Motor nerve conduction velocities (MNCVs) were significantly slowed consistent with type 1 CMT. Fifty-six obligate carriers manifested mild distal weakness, localized areflexia, pes cavus, and slowing on MNCVs. Seven X-linked restriction fragment length polymorphisms mapping in the Xp11-q21 region were tested for linkage against CMT. Two-point linkage results showed the highest lod scores with PGK1, DXS159, and DXYS1. Multipoint linkage analysis excluded the CMT gene from being telomeric to either DXS14 or DXYS1, with over 1,000:1 odds. The highest location scores were at PGK1 and 1 cM proximal to DXS159.

journal_name

Neurology

journal_title

Neurology

authors

Ionasescu VV,Trofatter J,Haines JL,Ionasescu R,Searby C

doi

10.1212/wnl.42.4.903

subject

Has Abstract

pub_date

1992-04-01 00:00:00

pages

903-8

issue

4

eissn

0028-3878

issn

1526-632X

journal_volume

42

pub_type

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