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

被引：85

作者：

Meggouh, F.

Bienfait, H. M. E.

Weterman, M. A. J.

de Visser, M.

Baas, F.

机构：

[1] Neurogenet Lab AMC, NL-1105 AZ Amsterdam, Netherlands

[2] Acad Med Ctr, Neurogenet Dept, NL-1105 AZ Amsterdam, Netherlands

来源：

NEUROLOGY | 2006年 / 67卷 / 08期

关键词：

D O I：

10.1212/01.wnl.0000240068.21499.f5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1476 / 1478

页数：3

共 6 条

[1] Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I [J].