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X inactivation in females with X-linked Charcot–Marie–Tooth disease

✍ Scribed by Sinéad M. Murphy; Richard Ovens; James Polke; Carly E. Siskind; Matilde Laurà; Karen Bull; Gita Ramdharry; Henry Houlden; Raymond P.J. Murphy; Michael E. Shy; Mary M. Reilly


Book ID
116795255
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
229 KB
Volume
22
Category
Article
ISSN
0960-8966

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We studied 29 families with X-linked dominant CMT (CMTX1) neuropathy. Twenty-five families showed mutations in the coding region of the connexin32 (Cx32) gene. The mutations included five nonsense mutations, 17 missense mutations, two medium size deletions and one insertion. Most missense mutations