Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves

Abstract Copy number variation of the peripheral nerve myelin gene Peripheral Myelin Protein 22 (PMP22) causes multiple forms of inherited peripheral neuropathy. The duplication of a 1.4 Mb segment surrounding this gene in chromosome 17p12 (c17p12) causes the most common form of Charcot-Marie-Tooth...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human molecular genetics 2020-06, Vol.29 (10), p.1689-1699
Hauptverfasser:	Pantera, Harrison, Hu, Bo, Moiseev, Daniel, Dunham, Chris, Rashid, Jibraan, Moran, John J, Krentz, Kathleen, Rubinstein, C Dustin, Won, Seongsik, Li, Jun, Svaren, John
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Animals Arthrogryposis - genetics Arthrogryposis - metabolism Arthrogryposis - pathology Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - metabolism Charcot-Marie-Tooth Disease - pathology DNA Copy Number Variations - genetics Enhancer Elements, Genetic - genetics Hereditary Sensory and Motor Neuropathy - genetics Hereditary Sensory and Motor Neuropathy - metabolism Hereditary Sensory and Motor Neuropathy - pathology Heterozygote Humans Mice Myelin Proteins - genetics Myelin Sheath - genetics Myelin Sheath - metabolism Peripheral Nerves - metabolism Peripheral Nerves - pathology Phenotype Schwann Cells - metabolism Schwann Cells - pathology
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!