Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
Neurology
; 67(8): 1476-8, 2006 Oct 24.
Article
em En
| MEDLINE
| ID: mdl-17060578
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Charcot-Marie-Tooth
/
Mutação de Sentido Incorreto
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Proteínas rab de Ligação ao GTP
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Ano de publicação:
2006
Tipo de documento:
Article