Article
Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
Neurology - 24 Oct 2006
Meggouh F, Bienfait H M E, Weterman M A J, de Visser M, Baas F
Abstract excerpt
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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