Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Acyltransferases / genetics
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Adult
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Asparagine
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Charcot-Marie-Tooth Disease / complications
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Charcot-Marie-Tooth Disease / genetics*
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Cytosine
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Foot Ulcer / etiology
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Genetic Variation
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Guanine
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Heterozygote
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Humans
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Lysine
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Male
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Mutation, Missense*
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Pedigree
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Serine C-Palmitoyltransferase
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rab GTP-Binding Proteins / genetics*
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rab7 GTP-Binding Proteins
Substances
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rab7 GTP-Binding Proteins
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rab7 GTP-binding proteins, human
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Guanine
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Asparagine
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Cytosine
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Acyltransferases
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SPTLC1 protein, human
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Serine C-Palmitoyltransferase
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rab GTP-Binding Proteins
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Lysine