Article
A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Apr 2006
Murru M R, Vannelli A, Marrosu G, Cocco E, Corongiu D, Tranquilli S, Cherchi M V, Mura M, Barberini L, Mallarini G, Marrosu M G
Abstract excerpt
The objective of this study was to study genetic and phenotypic features of a family with X-linked Charcot-Marie-Tooth consisting of a healthy father, affected mother, two affected sons and one healthy one. A detailed electrophysiological and neuroimaging study, along with sequencing of the Cx32 gene, was performed in all family members. A novel Cx32 123 G>C mutation, determining an aminoacid variation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.