Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene

F. Meggouh; H. M. E. Bienfait; M. A. J. Weterman; M. de Visser; F. Baas

doi:10.1212/01.wnl.0000240068.21499.f5

Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene

F. Meggouh
, H. M. E. Bienfait
, M. A. J. Weterman
, M. de Visser
, F. Baas

Research output: Contribution to journal › Article › Academic › peer-review

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

Original language	English
Pages (from-to)	1476-1478
Journal	Neurology
Volume	67
Issue number	8
DOIs	https://doi.org/10.1212/01.wnl.0000240068.21499.f5
Publication status	Published - 2006

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title = "Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene",

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",

author = "F. Meggouh and Bienfait, \{H. M. E.\} and Weterman, \{M. A. J.\} and \{de Visser\}, M. and F. Baas",

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AU - Meggouh, F.

AU - Bienfait, H. M. E.

AU - Weterman, M. A. J.

AU - de Visser, M.

AU - Baas, F.

PY - 2006

Y1 - 2006

N2 - 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

AB - 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

U2 - 10.1212/01.wnl.0000240068.21499.f5

DO - 10.1212/01.wnl.0000240068.21499.f5

M3 - Article

C2 - 17060578

SN - 0028-3878

VL - 67

SP - 1476

EP - 1478

JO - Neurology

JF - Neurology

IS - 8

ER -

Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene

Abstract

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