[Polymorphism of epilepsy associated with the A3243G mutation of mitochondrial DNA (MELAS): reasons for delayed diagnosis] (Q80800858)

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3 January 2020

title

[Polymorphism of epilepsy associated with the A3243G mutation of mitochondrial DNA (MELAS): reasons for delayed diagnosis] (English)

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3 January 2020

2

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3 January 2020

Francois Mauguière

series ordinal

3

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3 January 2020

author name string

F Durand-Dubief

series ordinal

1

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publication date

1 September 2004

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3 January 2020

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3 January 2020

volume

160

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issue

8-9

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3 January 2020

page(s)

824-829

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Gene dosage effect in one family with myoclonic epilepsy and ragged-red fibers (MERRF)

3 January 2020

cites work

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Progressive myoclonus epilepsies: specific causes and diagnosis

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Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study

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7 January 2021

Clinical heterogeneity in two pedigrees with the 3243 bp tRNA(Leu(UUR)) mutation of mitochondrial DNA

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7 January 2021

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA

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Epileptic phenotypes associated with mitochondrial disorders

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Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes

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7 January 2021

MELAS: clinical features, biochemistry, and molecular genetics

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Clinical spectrum of the MELAS mutation in a large pedigree.

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Intrafamilial heterogeneous clinical presentation of the mitochondrial 3243 MELAS mutation; molecular investigations among four generations

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Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation

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Assessing the relative incidence of mitochondrial DNA A3243G in migraine without aura with maternal inheritance

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The 3243 MELAS Mutation in a Pedigree with MERRF

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Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases.

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A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

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7 January 2021

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

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The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study

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Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

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7 January 2021

A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy

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7 January 2021

Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations

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Symptomatic occipital lobe epilepsy

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Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics

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7 January 2021

The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages

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7 January 2021

A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome

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7 January 2021

The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings.

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7 January 2021

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

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7 January 2021

Maternally inherited mitochondrial myopathy and myoclonic epilepsy

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7 January 2021

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

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7 January 2021

Cortical reflex myoclonus in patients with the mitochondrial DNA transfer RNA(Lys)(8344) (MERRF) mutation

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7 January 2021

A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation

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7 January 2021

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

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7 January 2021

Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies

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7 January 2021

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Identifiers

DOI

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3 January 2020

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