The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of hereditary peripheral neuropathies. We previously reported a CMT locus on chromosome 19q13.3 segregating with the disease in a large Costa Rican family with axonal neuropathy and autosomal recessive pattern of inheritance (CMT2B2)...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Neurogenetics
Hauptverfasser: Leal, Alejandro, Bogantes-Ledezma, Sixto, Ekici, Arif B., Uebe, Steffen, Thiel, Christian T., Sticht, Heinrich, Berghoff, Martin, Berghoff, Corinna, Morera, Bernal, Meisterernst, Michael, Reis, André
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer Berlin Heidelberg 2018
Schlagworte:
Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6280876/
https://ncbi.nlm.nih.gov/pubmed/30039206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-018-0555-7
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge