Dumoulin, R Human cultured myoblasts: a model for the diagnosis of mitochondrial diseases. [electronic resource] - Journal of inherited metabolic disease 1993 - 545-7 p. digital Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't ISSN: 0141-8955 Standard No.: 10.1007/BF00711677 doi Subjects--Topical Terms: AdolescentAdultCarnitine O-Palmitoyltransferase--deficiencyCells, CulturedChildDNA, Mitochondrial--metabolismFemaleHumansKetoglutarate Dehydrogenase Complex--deficiencyMaleMitochondrial Myopathies--diagnosisMuscle, Skeletal--pathologyPoint Mutation