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Mitochondrial diseases are a heterogeneous group of disorders in which mitochondrial dysfunction produces clinical disease. In the central and peripheral neuromuscular systems, they include such diverse disorders as Alper’s disease, a progressive cerebral poliodystrophy of infancy, and carnitine palmitoyl transferase deficiency, a relatively benign disorder characterized by exercise-induced myoglobinuria. Mitochondrial myopathies are diseases in which the clinical presentation and course of illness are dominated by pathologic involvement of muscle.
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