Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene
نویسندگان
چکیده
منابع مشابه
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 and with negative results in myotonic dystrophy type 2 genetic screening (DM2-neg group) and 93 pat...
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ژورنال
عنوان ژورنال: Neurology
سال: 2017
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000003846