Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene

The spectrum of Charcot-Marie-Tooth (CMT) phenotypes segregating with mutations in the Myelin Protein Zero (MPZ) gene is wide and ranges from congenital hypomyelinating neuropathy (CHN) through demyelinating form of CMT to the axonal type of CMT disease. Within 94 MPZ gene mutations reported up to n...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	European journal of paediatric neurology 2004-01, Vol.8 (4), p.221-224
Hauptverfasser:	Kochański, Andrzej, Kabzińska, Dagmara, Drac, Hanna, Ryniewicz, Barbara, Rowińska-Marcińska, Katarzyna, Hausmanowa-Petrusewicz, Irena
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth type 1 disease Child Child, Preschool DNA Mutational Analysis Exons Female Follow-Up Studies Frame-shift mutation in the MPZ gene Frameshift Mutation Genes, Dominant Humans Leucine - genetics Myelin P0 Protein - genetics Myelin Proteins - genetics Point Mutation Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!