Articles with "cav1 r1239g" as a keyword



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Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)

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Published in 2019 at "Journal of Neurology"

DOI: 10.1007/s00415-019-09302-3

Abstract: We report a young wheelchair-dependent patient with an unclear proximal myopathy and a heterozygous, de-novo Cav1.1-R1239G mutation suggesting hypokalemic periodic paralysis (HypoPP). Sonography showed a loss of the pennate pattern indicative of an edema, whereas… read more here.

Keywords: periodic paralysis; strength; muscle; cav1 r1239g ... See more keywords