|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0027740,
umls-concept:C0031437,
umls-concept:C0162735,
umls-concept:C0205314,
umls-concept:C0393814,
umls-concept:C0520484,
umls-concept:C0678227,
umls-concept:C0679622,
umls-concept:C1418677,
umls-concept:C2603343,
umls-concept:C2698698
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|
pubmed:issue |
3
|
|
pubmed:dateCreated |
1998-10-20
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|
pubmed:abstractText |
Hereditary neuropathy with liability to pressure palsies (HNPP) in most cases is caused by a deletion in chromosome 17p11.2-12 or, rarely, mutations resulting in a functional loss of one copy of the peripheral myelin protein 22 (PMP22) gene. Point mutations that lie deep within transmembrane (TM) domains causing major structural changes in PMP22 are associated with severe neuropathy.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Sep
|
|
pubmed:issn |
0028-3878
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
51
|
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pubmed:owner |
NLM
|
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pubmed:authorsComplete |
Y
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pubmed:pagination |
702-7
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:9748013-Adult,
pubmed-meshheading:9748013-Animals,
pubmed-meshheading:9748013-Charcot-Marie-Tooth Disease,
pubmed-meshheading:9748013-Chromosomes, Human, Pair 17,
pubmed-meshheading:9748013-Female,
pubmed-meshheading:9748013-Humans,
pubmed-meshheading:9748013-Male,
pubmed-meshheading:9748013-Mice,
pubmed-meshheading:9748013-Mice, Nude,
pubmed-meshheading:9748013-Microscopy, Electron,
pubmed-meshheading:9748013-Myelin Proteins,
pubmed-meshheading:9748013-Neurofilament Proteins,
pubmed-meshheading:9748013-Paresis,
pubmed-meshheading:9748013-Pedigree,
pubmed-meshheading:9748013-Point Mutation,
pubmed-meshheading:9748013-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:9748013-Pressure,
pubmed-meshheading:9748013-Sural Nerve,
pubmed-meshheading:9748013-Transplantation, Heterologous
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pubmed:year |
1998
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|
pubmed:articleTitle |
A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts.
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|
pubmed:affiliation |
The Ohio State University, Department of Neurology, Neuromuscular Disease Center, Columbus 43210, USA.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
