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dc.contributor.authorSiskind, Carly E
dc.contributor.authorMurphy, Sinéad M
dc.contributor.authorOvens, Richard
dc.contributor.authorPolke, James
dc.contributor.authorReilly, Mary M
dc.contributor.authorShy, Michael E
dc.date.accessioned2012-12-05T10:14:52Z
dc.date.available2012-12-05T10:14:52Z
dc.date.issued2011-06
dc.identifier.citationPhenotype expression in women with CMT1X. 2011, 16 (2):102-7 J. Peripher. Nerv. Syst.en_GB
dc.identifier.issn1529-8027
dc.identifier.pmid21692908
dc.identifier.doi10.1111/j.1529-8027.2011.00332.x
dc.identifier.urihttp://hdl.handle.net/10147/254553
dc.description.abstractCharcot-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 CMT1X were evaluated using the CMT neuropathy score (CMTNS) and the CMT symptom score in cross-sectional and longitudinal analyses. Lower scores correspond to less disability. WBCs were analyzed for X-inactivation pattern by androgen receptor X-inactivation assay in 14 patients and 23 controls. The 31 women's mean CMTNS was 8.35. Two-thirds of the cohort had a mild CMTNS (mean 4.85) and one-third had a moderate CMTNS (mean 14.73). Three patients had a CMTNS of 0. The pattern of X-inactivation did not differ between the affected and control groups. Women with CMT1X presented with variable impairment independent of age, type of mutation, or location of mutation. No evidence supported the presence of a gap junction beta-1 (GJB1) mutation affecting the pattern of X-inactivation in blood. Further studies are planned to determine whether X-inactivation is the mechanism for CMT1X females' variable phenotypes.
dc.language.isoenen
dc.publisherJournal of the peripheral nervous system : JPNSen_GB
dc.rightsArchived with thanks to Journal of the peripheral nervous system : JPNSen_GB
dc.subject.meshAdolescent
dc.subject.meshAdult
dc.subject.meshAged
dc.subject.meshAged, 80 and over
dc.subject.meshCharcot-Marie-Tooth Disease
dc.subject.meshChild
dc.subject.meshElectrophysiology
dc.subject.meshFemale
dc.subject.meshGenetic Diseases, X-Linked
dc.subject.meshHumans
dc.subject.meshMiddle Aged
dc.subject.meshNeural Conduction
dc.subject.meshPedigree
dc.subject.meshPhenotype
dc.subject.meshX Chromosome Inactivation
dc.subject.meshYoung Adult
dc.titlePhenotype expression in women with CMT1X.en_GB
dc.typeArticleen
dc.contributor.departmentDepartment of Neurology, Wayne State University, Detroit, MI 48201, USA. csiskind@med.wayne.eduen_GB
dc.identifier.journalJournal of the peripheral nervous system : JPNSen_GB
dc.description.provinceLeinsteren
html.description.abstractCharcot-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 CMT1X were evaluated using the CMT neuropathy score (CMTNS) and the CMT symptom score in cross-sectional and longitudinal analyses. Lower scores correspond to less disability. WBCs were analyzed for X-inactivation pattern by androgen receptor X-inactivation assay in 14 patients and 23 controls. The 31 women's mean CMTNS was 8.35. Two-thirds of the cohort had a mild CMTNS (mean 4.85) and one-third had a moderate CMTNS (mean 14.73). Three patients had a CMTNS of 0. The pattern of X-inactivation did not differ between the affected and control groups. Women with CMT1X presented with variable impairment independent of age, type of mutation, or location of mutation. No evidence supported the presence of a gap junction beta-1 (GJB1) mutation affecting the pattern of X-inactivation in blood. Further studies are planned to determine whether X-inactivation is the mechanism for CMT1X females' variable phenotypes.


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