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A linkage study of the locus for X-linked Charcot-Marie-Tooth disease

✍ Scribed by P. Goonewardena; J. Welihinda; M. Anvret; J. Gyftodimou; A. Haegermark; L. Iselius; J. Lindsten; U. Pettersson


Book ID
115089822
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
367 KB
Volume
33
Category
Article
ISSN
0009-9163

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This report describes two families with type 1 Charcot-Marie-Tooth disease (CMTX), or hereditary motor sensory neuropathy type 1. Pedigree analysis is consistent with Xlinked recessive inheritance in one family and X-linked dominant inheritance in the second. In the first family, a mutation in the c