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rdf:type |
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lifeskim:mentions |
umls-concept:C0015576,
umls-concept:C0026882,
umls-concept:C0031437,
umls-concept:C0033095,
umls-concept:C0205314,
umls-concept:C0270911,
umls-concept:C0522224,
umls-concept:C0598589,
umls-concept:C0679622,
umls-concept:C1413535,
umls-concept:C1418677,
umls-concept:C2698698
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pubmed:issue |
3
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pubmed:dateCreated |
2004-10-1
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|
pubmed:abstractText |
We describe a Cypriot family in which some family members presented with episodes of pressure palsies, while other family members had a slowly progressive chronic polyneuropathy typical of the Charcot-Marie-Tooth type 1 phenotype. All family members were evaluated clinically, with nerve conduction studies, and with genetic testing. In all affected individuals there was clinical and electrophysiological evidence of diffuse demyelinating sensorimotor polyneuropathy and a novel point mutation in the PMP22 gene (Ser22Phe) was identified.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1364-6745
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
5
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
171-5
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15205993-Adult,
pubmed-meshheading:15205993-Charcot-Marie-Tooth Disease,
pubmed-meshheading:15205993-Electrophysiology,
pubmed-meshheading:15205993-Exons,
pubmed-meshheading:15205993-Family Health,
pubmed-meshheading:15205993-Female,
pubmed-meshheading:15205993-Genetic Predisposition to Disease,
pubmed-meshheading:15205993-Humans,
pubmed-meshheading:15205993-Male,
pubmed-meshheading:15205993-Mutation,
pubmed-meshheading:15205993-Myelin Proteins,
pubmed-meshheading:15205993-Neurons,
pubmed-meshheading:15205993-Pedigree,
pubmed-meshheading:15205993-Peripheral Nervous System Diseases,
pubmed-meshheading:15205993-Phenotype,
pubmed-meshheading:15205993-Phenylalanine,
pubmed-meshheading:15205993-Point Mutation,
pubmed-meshheading:15205993-Sequence Analysis, DNA,
pubmed-meshheading:15205993-Serine
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pubmed:year |
2004
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pubmed:articleTitle |
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
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pubmed:affiliation |
Department of Clinical Neurosciences, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. kleopa@cing.ac.cy
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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