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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2006-10-24
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pubmed:abstractText |
We report a 32-year-old patient with Charcot-Marie-Tooth (CMT2B) including foot ulcerations. Genetic analysis identified a de novo mutation in the small GTP-ase late endosomal RAB7 gene, consisting of a c.471G>C, p.Lys157Asn missense mutation. This observation strongly supports the hypothesis that RAB7 mutations are responsible for CMT2B.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
24
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pubmed:volume |
67
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1476-8
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:17060578-Acyltransferases,
pubmed-meshheading:17060578-Adult,
pubmed-meshheading:17060578-Asparagine,
pubmed-meshheading:17060578-Charcot-Marie-Tooth Disease,
pubmed-meshheading:17060578-Cytosine,
pubmed-meshheading:17060578-Foot Ulcer,
pubmed-meshheading:17060578-Genetic Variation,
pubmed-meshheading:17060578-Guanine,
pubmed-meshheading:17060578-Heterozygote,
pubmed-meshheading:17060578-Humans,
pubmed-meshheading:17060578-Lysine,
pubmed-meshheading:17060578-Male,
pubmed-meshheading:17060578-Mutation, Missense,
pubmed-meshheading:17060578-Pedigree,
pubmed-meshheading:17060578-Serine C-Palmitoyltransferase,
pubmed-meshheading:17060578-rab GTP-Binding Proteins
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pubmed:year |
2006
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pubmed:articleTitle |
Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
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pubmed:affiliation |
Neurogenetics Department, AMC, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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