|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
5
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|
pubmed:dateCreated |
2004-4-21
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|
pubmed:abstractText |
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.
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|
pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
May
|
|
pubmed:issn |
0960-8966
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|
pubmed:author |
|
|
pubmed:issnType |
Print
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|
pubmed:volume |
14
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
325-8
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|
pubmed:dateRevised |
2006-11-15
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|
pubmed:meshHeading |
pubmed-meshheading:15099592-Adult,
pubmed-meshheading:15099592-Arginine,
pubmed-meshheading:15099592-Charcot-Marie-Tooth Disease,
pubmed-meshheading:15099592-DNA Mutational Analysis,
pubmed-meshheading:15099592-Exons,
pubmed-meshheading:15099592-Family Health,
pubmed-meshheading:15099592-Female,
pubmed-meshheading:15099592-Hearing Loss, Sensorineural,
pubmed-meshheading:15099592-Humans,
pubmed-meshheading:15099592-Male,
pubmed-meshheading:15099592-Myelin Proteins,
pubmed-meshheading:15099592-Pedigree,
pubmed-meshheading:15099592-Phenotype,
pubmed-meshheading:15099592-Point Mutation,
pubmed-meshheading:15099592-Threonine
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|
pubmed:year |
2004
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|
pubmed:articleTitle |
A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.
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pubmed:affiliation |
Department of Neurology, Ajou University School of Medicine, Suwon, South Korea.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|
