Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

MELAS-Syndrom

Das MELAS-Syndrom ist eine mitochondrial vererbte Erkrankung, die in einem stark wechselnden Ausmaß durch eine Myopathie, Enzephalopathie, Laktatazidose und schlaganfallähnliche Ereignisse gekennzeichnet ist.

Gliederung

Erbliche Stoffwechselerkrankungen
Acoeruloplasminämie/Hypocoeruloplasminämie
Coenzym Q10-Mangel
Erbliche Fettstoffwechselerkrankungen
Genetisch bedingte Hyperbilirubinämie
Glycolipidose
HADH-Mangel
Hypomagnesiämie
Hypomethylierungs-Syndrom
Kongenitale Glykosilierungsstörung
Lebensmittelunverträglichkeiten
Lysosomale Speicherkrankheiten
MELAS-Syndrom
EHHADH
ND1
ND5
ND6
TRNC
TRNH
TRNK
TRNQ
TRNS1
TRNS2
Methioninadenosyltransferase-Mangel
Störungen des Cobalaminstoffwechsels
Störungen des Eisenstoffwechsels
Störungen des Glucosestoffwechsels
Störungen des Harnstoffzyklus
Störungen des Harnsäurestoffwechsels
Störungen des Phosphathaushaltes

Referenzen:

1.

Kirby DM et al. (2004) Mutations of the mitochondrial ND1 gene as a cause of MELAS.

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2.

Lertrit P et al. (1992) A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.

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3.

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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4.

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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5.

Yoneda M et al. (1992) Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.

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6.

Bataillard M et al. (2001) Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation.

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7.

Melone MA et al. (2004) Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.

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8.

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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9.

Moraes CT et al. (1992) The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.

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10.

Ciafaloni E et al. (1992) MELAS: clinical features, biochemistry, and molecular genetics.

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11.

Enter C et al. (1991) A specific point mutation in the mitochondrial genome of Caucasians with MELAS.

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12.

Kobayashi Y et al. (1991) Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).

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13.

Janssen AJ et al. (2008) Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

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14.

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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15.

Costello DJ et al. (2009) Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation.

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16.

Parsons T et al. (2010) Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.

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17.

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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18.

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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19.

Mosewich RK et al. (1993) The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke.

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20.

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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21.

Pavlakis SG et al. (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.

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22.

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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23.

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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24.

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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25.

Kaufmann P et al. (2006) Nerve conduction abnormalities in patients with MELAS and the A3243G mutation.

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26.

Kisanuki YY et al. (2006) Late-onset mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes with bitemporal lesions.

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27.

De Quick M et al. (1991) MELAS: a family with paternal inheritance.

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28.

Montagna P et al. (1988) MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission.

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