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Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene

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...

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Bibliografske podrobnosti
izdano v:Neurology
Main Authors: Palmio, Johanna, Sandell, Satu, Hanna, Michael G., Männikkö, Roope, Penttilä, Sini, Udd, Bjarne
Format: Artigo
Jezik:Inglês
Izdano: Lippincott Williams & Wilkins 2017
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5395072/
https://ncbi.nlm.nih.gov/pubmed/28330959
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000003846
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