Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene

Charcot-Marie-Tooth type 4F disease (CMT4F) is an autosomal recessive neuropathy caused by mutations in the PRX gene. To date, only seven mutations have been identified in the PRX gene. In this study, the authors report a novel S399fsX410 mutation in the PRX gene and its effects at the protein level...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Neurology 2006-03, Vol.66 (5), p.745-747
Hauptverfasser:	KABZINSKA, D, DRAC, H, SHERMAN, D. L, KOSTERA-PRUSZCZYK, A, BROPHY, P. J, KOCHANSKI, A, HAUSMANOWA-PETRUSEWICZ, I
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Biological and medical sciences Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - pathology Child Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Diseases of striated muscles. Neuromuscular diseases Exons Genetic Carrier Screening Humans Male Medical sciences Membrane Proteins - genetics Neurology Sequence Deletion Sural Nerve - pathology
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	Charcot-Marie-Tooth type 4F disease (CMT4F) is an autosomal recessive neuropathy caused by mutations in the PRX gene. To date, only seven mutations have been identified in the PRX gene. In this study, the authors report a novel S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onset CMT disease.
ISSN:	0028-3878 1526-632X
DOI:	10.1212/01.wnl.0000201269.46071.35