Article
Axonal excitability in X-linked dominant Charcot Marie Tooth disease.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology - 1 Jun 2014
Liang Christina, Howells James, Kennerson Marina, Nicholson Garth A, Burke David, Ng Karl
Abstract excerpt
OBJECTIVE: We investigated peripheral nerve function in X-linked Charcot-Marie-Tooth disease type 1 (CMTX1), and considered the functional consequences of mutant connexin-32. METHODS: Twelve subjects (9 female, 3 male) were assessed clinically, by nerve conduction and excitability studies. A model of myelinated axon was used to clarify the contributing changes. RESULTS: All subjects had abnormal nerve conduction....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
