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The most frequent clinical presentation is the milder myopathic Type III form, which manifests with fluctuating proximal and axial myopathy with exercise intolerance and occasionally respiratory insufficiency [138] or rhabdomyolysis, although often with hepatomegaly, encephalopathy, and episodic lethargy, as well as vomiting and hypoglycemia often triggered by metabolic stress, episodes of which have been lethal in 5% of patients [140]

Aan de hand van de OSA-vragenlijst bleek dat de slaap-en droomkwaliteit, het herstel na vermoeidheid en het fris wakker worden verbeterden met L-theanine
