© Georg Thieme Verlag KG Stuttgart · New York
Mitochondrial Angiopathy in a Family with MELAS
19 March 2008 (online)
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.
Mitochondrial encephalomyopathy (MELAS) - NADH dehydrogenase deficiency - Mitochondrial angiopathy