Charcot-Marie-Tooth Disease, Axonal, Type 2B
OMIM:600882Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | RAB7 |
|---|---|
| Reference transcript | NM_004637.5 |
| DNA Change | c.471G>C |
| A.A. Change | p.Lys157Asn |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Meggouh F, Bienfait HM, Weterman MA, de Visser M, Baas F.Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene. Neurology. 2006 Oct 24;67(8):1476-8. |