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A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.

Authors
Joo, IS; Ki, CS; Joo, SY; Huh, K; Kim, JW
Citation
Neuromuscular disorders : NMD, 14(5):325-328, 2004
Journal Title
Neuromuscular disorders : NMD
ISSN
0960-89661873-2364
Abstract
Charcot-Marie-Tooth disease with deafness is a clinically distinct entity and is associated with mutations or deletions in several genes including PMP22 gene. Here, we report a large family showing characteristic phenotypes of Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant fashion. We detected a sequence variation (c.68C>G) co-segregating with the disease phenotype and leading to a T23R missense mutation in PMP22.
MeSH terms
AdultArginine/geneticsCharcot-Marie-Tooth Disease/complications/*geneticsDNA Mutational AnalysisExons*Family HealthFemaleHearing Loss, Sensorineural/complications/*geneticsHumansMaleMyelin Proteins/*geneticsPedigreePhenotype*Point MutationThreonine/genetics
DOI
10.1016/j.nmd.2004.02.009
PMID
15099592
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Neurology
AJOU Authors
주, 인수허, 균
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