Article
Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene.
Neurology - 18 Apr 2017
Palmio Johanna, Sandell Satu, Hanna Michael G, Männikkö Roope, Penttilä Sini, Udd Bjarne
Abstract excerpt
OBJECTIVE: To characterize the clinical phenotype in patients with p.A1156T sodium channel mutation. METHODS: Twenty-nine Finnish patients identified with the c.3466G>A p.A1156T mutation in the SCN4A gene were extensively examined. In a subsequent study, 63 patients with similar myalgic phenotype and with negative results in myotonic dystrophy type 2 genetic screening (DM2-neg group) and 93 patients diagnosed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
