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A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype

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Description scientific article published on 19 October 2016
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author: Bas C Stunnenberg  Nicol Voermans  Erik-Jan Kamsteeg 

Publication date October 19, 2016
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