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The phenotypic and genotypic features of a Scottish cohort with McArdle disease.

Neuromuscular disorders : NMD - 1 Aug 2021

Gandhi Sacha E, Longman Cheryl, Petty Richard K H, Brennan Kathryn M, Stewart Willie, Kinch Kevin, Töpf Ana, Straub Volker, Quinlivan Rosaline, Farrugia Maria Elena

Abstract excerpt

This retrospective study evaluated the phenotypic and genotypic features of 14 patients with McArdle disease attending the West of Scotland adult muscle clinic. Although all patients experienced exercise-induced cramps, exercise intolerance and hyperCKaemia, only 71% (n = 10) experienced the second wind phenomenon, rhabdomyolysis and/or myoglobinuria. We observed a high rate of fixed muscle weakness (50%; n = 7),...

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PMID: 34215481
DOI: 10.1016/j.nmd.2021.05.009

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