Article
Phenotype expression in women with CMT1X.
Journal of the peripheral nervous system : JPNS - 1 Jun 2011
Siskind Carly E, Murphy Sinéad M, Ovens Richard, Polke James, Reilly Mary M, Shy Michael E
Abstract excerpt
Charcot-Marie-Tooth disease type 1X (CMT1X) is the second most common inherited peripheral neuropathy. Women with CMT1X typically have a less severe phenotype than men, perhaps because of X-inactivation patterns. Our objective was to determine the phenotype of women with CMT1X and whether X-inactivation patterns in white blood cells (WBCs) differ between females with CMT1X and controls. Thirty-one women with...
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