title: Mitochondrial angiopathy in a family with MELAS.
abstract: A family with mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike epidoses (MELAS) affecting mother, son and daughter is described. Biochemical studies on muscle biopsy specimen in one patient revealed NADH dehydrogenase (complex I) deficiency. A mitochondrial angiopathy could be demonstrated by brain and muscle biopsy. It is suggested that the mitochondrial angiopathy is the basic pathogenic mechanism of impaired cerebral circulation in MELAS.
authors.affiliation: Department of Pediatrics, University of Munich, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Förster
authors.forename: G
authors.initials: G
authors.lastname: Hübner
authors.forename: J
authors.initials: J
authors.lastname: Müller-Höcker
authors.forename: D
authors.initials: D
authors.lastname: Pongratz
authors.forename: P
authors.initials: P
authors.lastname: Baierl
authors.forename: R
authors.initials: R
authors.lastname: Senger
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
mesh_terms: D000140:Acidosis, Lactic / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000098:blood supply*; D002196:Capillaries / Q000473:pathology; D002540:Cerebral Cortex / Q000098:blood supply; D002561:Cerebrovascular Disorders / Q000235:genetics* / Q000473:pathology; D002648:Child; D030401:Cytochrome-c Oxidase Deficiency; D004730:Endothelium, Vascular / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009131:Muscle, Smooth, Vascular / Q000473:pathology*; D009460:Neurologic Examination; D013577:Syndrome