(Q44051987)

29 November 2017

title

Phenotypes and mitochondrial DNA substitutions in families with A3243G mutation (English)

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29 November 2017

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Morovvati S

1

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29 November 2017

Nakagawa M

2

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29 November 2017

Sato Y

3

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29 November 2017

Hamada K

4

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29 November 2017

Higuchi I

5

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29 November 2017

Osame M

6

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29 November 2017

language of work or name

English

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publication date

1 August 2002

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Acta Neurologica Scandinavica

29 November 2017

published in

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29 November 2017

volume

106

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29 November 2017

issue

2

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29 November 2017

page(s)

104-108

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

29 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation

21 January 2018

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https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects

21 January 2018

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https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

Mitochondrial cardiomyopathy: molecular and biochemical analysis

21 January 2018

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https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

Acute peripheral neuropathy, rhabdomyolysis, and severe lactic acidosis associated with 3243 A to G mitochondrial DNA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome

21 January 2018

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https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

21 January 2018

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https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

Follow-up in carriers of the 'MELAS' mutation without strokes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene

21 January 2018

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https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

Mitochondrial myopathy and familial thiamine deficiency

21 January 2018

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https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity

21 January 2018

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https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

Diabetes mellitus associated with the 3243 mitochondrial tRNA(Leu)(UUR) mutation: insulin secretion and sensitivity

21 January 2018

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7 January 2021

Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation)

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https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

7 January 2021

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

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https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

7 January 2021

Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo

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https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

7 January 2021

Familial mitochondrial encephalomyopathy with deaf-mutism, ophthalmoplegia and leukodystrophy

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https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

7 January 2021

Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders

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https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

7 January 2021

Rapid progression of cardiomyopathy in mitochondrial diabetes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2002.01172.X

7 January 2021

10.1034/J.1600-0404.2002.01172.X

Identifiers

DOI

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29 November 2017

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