Das MELAS-Syndrom ist eine mitochondrial vererbte Erkrankung, die in einem stark wechselnden Ausmaß durch eine Myopathie, Enzephalopathie, Laktatazidose und schlaganfallähnliche Ereignisse gekennzeichnet ist.
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Montagna P et al. (1988) MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. |
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De Quick M et al. (1991) MELAS: a family with paternal inheritance. |
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Kisanuki YY et al. (2006) Late-onset mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes with bitemporal lesions. |
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Kaufmann P et al. (2006) Nerve conduction abnormalities in patients with MELAS and the A3243G mutation. |
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Goto Y et al. (1992) Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. |
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Testai FD et al. (2010) Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. |
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Nakamura M et al. (1995) A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. |
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Pavlakis SG et al. (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. |
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Zeviani M et al. (1993) A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. |
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Mosewich RK et al. (1993) The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke. |
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Kobayashi Y et al. (1990) A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). |
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Goto Y et al. (1990) A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. |
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Parsons T et al. (2010) Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. |
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Goto Y et al. (1991) A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). |
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Kirby DM et al. (2004) Mutations of the mitochondrial ND1 gene as a cause of MELAS. |
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Danks RA et al. (1988) Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema. |
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Ravn K et al. (2001) An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. |
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Yoneda M et al. (1992) Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. |
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Bataillard M et al. (2001) Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. |
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Melone MA et al. (2004) Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. |
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Latkany P et al. (1999) Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. |
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Ciafaloni E et al. (1992) MELAS: clinical features, biochemistry, and molecular genetics. |
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Enter C et al. (1991) A specific point mutation in the mitochondrial genome of Caucasians with MELAS. |
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Janssen AJ et al. (2008) Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. |
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Costello DJ et al. (2009) Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation. |
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OMIM.ORG article Omim 540000 |
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Orphanet article Orphanet ID 206966 |
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Wikipedia Artikel Wikipedia DE (Mitochondriopathie) |