Charcot-marie-tooth disease due to a de novo mutation of the RAB7 gene

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 tha...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Neurology 2006-10, Vol.67 (8), p.1476-1478
Hauptverfasser:	MEGGOUH, F, BIENFAIT, H. M. E, WETERMAN, M. A. J, DE VISSER, M, BAAS, F
Format:	Artikel
Sprache:	eng
Schlagworte:	Acyltransferases - genetics Adult Asparagine Biological and medical sciences Charcot-Marie-Tooth Disease - complications Charcot-Marie-Tooth Disease - genetics Cytosine Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Diseases of striated muscles. Neuromuscular diseases Foot Ulcer - etiology Genetic Variation Guanine Heterozygote Humans Lysine Male Medical sciences Mutation, Missense Neurology Pedigree rab GTP-Binding Proteins - genetics Serine C-Palmitoyltransferase
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	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.
ISSN:	0028-3878 1526-632X
DOI:	10.1212/01.wnl.0000240068.21499.f5