(Q49082669)

English

Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne.

scientific article published in March 1996

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/8786060

Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne. (English)

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/8786060

1 reference

based on heuristic

inferred from title

lactic acidosis

1 reference

based on heuristic

inferred from title

mitochondrial myopathy

1 reference

based on heuristic

inferred from title

Nils-Göran Larsson

2

object named as

N G Larsson

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/8786060

author name string

M Houshmand

1

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/8786060

A Oldfors

3

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/8786060

M Tulinius

4

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/8786060

E Holme

5

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/8786060

publication date

1 March 1996

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/8786060

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/8786060

97

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/8786060

3

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/8786060

269-273

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/8786060

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

1 reference

https://api.crossref.org/works/10.1007%2FBF02185750

21 January 2018

Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF02185750

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/8786060

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/8786060

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