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Behind each statistic is someone navigating a complex interplay of genetics, environment, metabolism, and psychology

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]

During your consultation, your physician will help determine which medication aligns best with your health history and goals

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