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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1996-8-9
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pubmed:abstractText |
The most common form of CMT with slow nerve conduction velocities (CMT type I) is CMT1A, caused by a submicroscopic duplication of a region of DNA on chromosome 17 including the PMP22 gene. This gene is expressed in peripheral nerve but not in the CNS. The second most common form is CMTX, caused by mutations in the connexin32 gene in the X chromosome. Connexin32 is expressed both in brain and in peripheral nerve. These molecular variants are difficult to distinguish clinically.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-1469398,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-1486731,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-1677316,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-1822774,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-1822787,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-1892226,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-2011255,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-2049992,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-223494,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-2766989,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-2770783,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-3399076,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-3471036,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-4430158,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-6287357,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-7354837,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-7477983,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-7685944,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-7693129,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-7745396,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-7870103,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-7946361,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-8026104,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-8255457,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8676158-8266101
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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 |
Jul
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pubmed:issn |
0022-3050
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
61
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
43-6
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pubmed:dateRevised |
2010-3-24
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pubmed:meshHeading |
pubmed-meshheading:8676158-Adolescent,
pubmed-meshheading:8676158-Adult,
pubmed-meshheading:8676158-Aged,
pubmed-meshheading:8676158-Charcot-Marie-Tooth Disease,
pubmed-meshheading:8676158-Child,
pubmed-meshheading:8676158-Chromosomes, Human, Pair 17,
pubmed-meshheading:8676158-Connexins,
pubmed-meshheading:8676158-Evoked Potentials, Auditory, Brain Stem,
pubmed-meshheading:8676158-Female,
pubmed-meshheading:8676158-Humans,
pubmed-meshheading:8676158-Male,
pubmed-meshheading:8676158-Middle Aged,
pubmed-meshheading:8676158-Multigene Family,
pubmed-meshheading:8676158-Neural Conduction,
pubmed-meshheading:8676158-Point Mutation,
pubmed-meshheading:8676158-Sex Factors,
pubmed-meshheading:8676158-Vestibulocochlear Nerve,
pubmed-meshheading:8676158-X Chromosome
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pubmed:year |
1996
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pubmed:articleTitle |
Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses.
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pubmed:affiliation |
University of Sydney, Department of Molecular Medicine, Concord Hospital NSW, Australia.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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