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Thurn JR, Pierpont GL, Ludvigsen CW, Eckfeldt JH

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2q33 Fumarate hydratase Lipoamide dehydrogenase deficiency (-ketoglutaric dehydrogenase) Pyruvate dehydrogenase Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH syndrome) Leigh's Also see: Infantile disorders Cardiomyopathy : Mitochondrial disorders Mitochondrial Cardiomyopathy: General Common in mitochondrial disorders May increase likelihood of mortality Hypertrophic: Most common form Cardiomyopathy: Mitochondrial DNA mutations General Often infantile onset Skeletal Muscle Pathology with mtRNA mutations: Ragged red fibers (COX - ) Noncompaction of left ventricular myocardium congenital heart defects (LVNC) Fatal cardiomyopathy, infantile onset mtRNA Ile (MTTI) Genetics Mutation: A4317G