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The study of cell death patterns is very important for elucidating the molecular mechanism of disease occurrence

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These observations indicate that the central melanocortin system is required for leptin to promote weight loss

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Specifically, five major phenotypes have been described: (1) encephalomyopathy (recurrent myoglobinuria, encephalopathy and mitochondrial myopathy), (2) cerebellar ataxia (cerebellar atrophy associated with other neurologic manifestations and, occasionally, endocrine dysfunctions), (3) infantile multisystemic form, (4) isolated myopathy, characterized by muscle weakness, myoglobinuria, exercise intolerance and elevated creatine kinase (CK), and (5) nephropathy