title: Cardioskeletal mitochondrial myopathy associated with chronic magnesium deficiency.
abstract: A 3-year-old boy presenting with convulsions and carpopedal spasm had hypomagnesemia and hypermagnesuria due to congenital magnesium-losing nephropathy. Despite chronic oral and intermittent intravenous magnesium supplementation, he remained chronically hypomagnesemic. At age 4, he developed a progressive proximal myopathy and dilated hypertrophic cardiomyopathy that ultimately contributed to his death at age 14 years. Skeletal and cardiac muscle specimens showed a mitochondrial myopathy with increased numbers of enlarged, structurally abnormal mitochondria. Muscle magnesium content was markedly decreased. Chronic oral and intermittent intravenous magnesium supplementation may be inadequate to prevent the progressive cardioskeletal myopathy associated with the chronic magnesium deficiency of congenital magnesium-losing nephropathy.
authors.affiliation: Department of Neurology, West Virginia University School of Medicine, Morgantown.
authors.forename: J E
authors.initials: JE
authors.lastname: Riggs
authors.forename: W G
authors.initials: WG
authors.lastname: Klingberg
authors.forename: E B
authors.initials: EB
authors.lastname: Flink
authors.forename: S S
authors.initials: SS
authors.lastname: Schochet
authors.forename: A A
authors.initials: AA
authors.lastname: Balian
authors.forename: J J
authors.initials: JJ
authors.lastname: Jenkins
mesh_terms: D001706:Biopsy; D009202:Cardiomyopathies / Q000209:etiology* / Q000473:pathology; D002675:Child, Preschool; D002908:Chronic Disease; D006801:Humans; D008275:Magnesium Deficiency / Q000150:complications* / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D008929:Mitochondria, Heart / Q000648:ultrastructure*; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009135:Muscular Diseases / Q000209:etiology* / Q000473:pathology