A new mitochondrial DNA mutation (A3288G) in the tRNALeu(UUR) gene associated with familial myopathy (Q63644733)

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10 December 2019

title

A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy (English)

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10 December 2019

5

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10 December 2019

Georgios M Hadjigeorgiou

1

object named as

G M Hadjigeorgiou

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10 December 2019

author name string

S H Kim

2

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10 December 2019

K H Fischbeck

3

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10 December 2019

A L Andreu

4

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10 December 2019

P Bingham

6

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10 December 2019

S Shanske

7

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10 December 2019

E Bonilla

8

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10 December 2019

S DiMauro

9

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10 December 2019

publication date

1 April 1999

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Journal of the Neurological Sciences

10 December 2019

published in

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10 December 2019

volume

164

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10 December 2019

issue

2

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10 December 2019

page(s)

153-157

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A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy

10 December 2019

cites work

1 reference

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Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900062-3

A mitochondrial tRNA anticodon swap associated with a muscle disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900062-3

Sequence and organization of the human mitochondrial genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900062-3

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900062-3

tRNA precursor transcribed from a mutant human gene inserted into a SV40 vector is processed incorrectly

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900062-3

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900062-3

Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

7 January 2021

1 reference

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10.1016/S0022-510X(99)00062-3

7 January 2021

Identifiers

DOI

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10 December 2019

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