Three families with Perry syndrome from distinct parts of the world

Abstract Objectives Perry syndrome consists of autosomal dominant Parkinsonism, depression, weight loss, and central hypoventilation. Eight mutations in 16 families have been reported: p.F52L, p.G67D, p.G71R, p.G71E, p.G71A, p.T72P, p.Q74P, and p.Y78C located in exon 2 of the dynactin 1 ( DCTN1 ) ge...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Parkinsonism & related disorders 2014-08, Vol.20 (8), p.884-888
Hauptverfasser:	Tacik, Pawel, Fiesel, Fabienne C, Fujioka, Shinsuke, Ross, Owen A, Pretelt, Felipe, Castañeda Cardona, Camilo, Kidd, Alexa, Hlavac, Michael, Raizis, Anthony, Okun, Michael S, Traynor, Sharleen, Strongosky, Audrey J, Springer, Wolfdieter, Wszolek, Zbigniew K
Format:	Artikel
Sprache:	eng
Schlagworte:	Colombia DCTN1 Depression - epidemiology Depression - genetics Depression - therapy Diaphragm - surgery Dynactin Complex Electrodes, Implanted Familial Female Gene mutation Humans Hypoventilation - epidemiology Hypoventilation - genetics Hypoventilation - therapy Male Microtubule-Associated Proteins - genetics Middle Aged Mutation Neurology New Zealand Parkinsonian Disorders - epidemiology Parkinsonian Disorders - genetics Parkinsonian Disorders - therapy Parkinsonism Pedigree Perry syndrome Respiratory insufficiency United States
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!