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