Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease

Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease

Abstract Background Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neurological disorders. A growing number of genes, involved in glial and neuronal functions, have been associated with different subtypes of CMT leading to improved diagnostics and understanding of pathophysi...

Full description

Bibliographic Details
Main Authors: Gerrit M. Grosse, Christine Bauer, Bruno Kopp, Christoph Schrader, Alma Osmanovic
Format: Article
Language:English
Published: BMC 2020-03-01
Series:BMC Medical Genetics
Subjects:
Charcot-Marie-Tooth
Next generation sequencing
SEPT9
Septin
Inherited neuropathy
Online Access:http://link.springer.com/article/10.1186/s12881-020-0984-7

Internet

http://link.springer.com/article/10.1186/s12881-020-0984-7

Similar Items