2010
DOI: 10.1136/jnnp.2009.195040
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Abstract: The clinical phenotype of 45 genetically confirmed McArdle patients is described.In the majority of patients (84%), the onset of symptoms was from early childhood, but diagnosis was frequently delayed until after 30 years of age. Not all patients could recognise a second wind, although it was always seen with exercise assessment. A history of myoglobinuria was not universal, and episodes of acute renal failure had occurred in a minority (11%). The condition does not appear to adversely affect pregnancy and chi… Show more

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Cited by 143 publications
(168 citation statements)
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“…A carefully taken history is essential to diagnose this condition. Exercise intolerance usually starts during the first few minutes of physical activity and is described as muscle pain, discomfort, stiffness, cramps, fatigue and/or exhaustion 2,4,6,7 . It is commonly associated with dyspnoea and tachycardia.…”
Section: Discussionmentioning
confidence: 99%
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“…A carefully taken history is essential to diagnose this condition. Exercise intolerance usually starts during the first few minutes of physical activity and is described as muscle pain, discomfort, stiffness, cramps, fatigue and/or exhaustion 2,4,6,7 . It is commonly associated with dyspnoea and tachycardia.…”
Section: Discussionmentioning
confidence: 99%
“…Fixed weakness affecting the paraspinal and upper limb muscles may occur. Muscle hypertrophy can also be seen in a proportion of patients 4,6,9 . The finding of a raised serum CK in combination with exercise intolerance should raise suspicion of a metabolic myopathy.…”
Section: Discussionmentioning
confidence: 99%
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