(Q48223108)

9 February 2018

title

Melas with point mutations involving tRNALeu (A3243G) and tRNAGlu(A14693g) (English)

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23 March 2024

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23 March 2024

author name string

Chin-Yuan Tzen

1

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9 February 2018

Peterus Thajeb

2

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9 February 2018

Tsu-Yen Wu

3

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9 February 2018

Shiu-Ching Chen

4

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9 February 2018

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14571459

23 March 2024

publication date

1 November 2003

1 reference

9 February 2018

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmus.10473

1 reference

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.10473

23 March 2024

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23 March 2024

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9 February 2018

volume

28

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9 February 2018

issue

5

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9 February 2018

page(s)

575-581

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9 February 2018

Sequence and organization of the human mitochondrial genome

cites work

1

1 reference

A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers

23 March 2024

2

1 reference

Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes

23 March 2024

3

1 reference

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

23 March 2024

4

1 reference

A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia

23 March 2024

5

1 reference

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

23 March 2024

7

1 reference

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

23 March 2024

8

1 reference

A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

23 March 2024

9

1 reference

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

23 March 2024

12

1 reference

Search for characteristic structural features of mammalian mitochondrial tRNAs.

23 March 2024

14

1 reference

The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't.

23 March 2024

15

1 reference

Three-Dimensional Structure of Yeast Phenylalanine Transfer RNA: Folding of the Polynucleotide Chain

23 March 2024

16

1 reference

Detailed molecular model for transfer ribonucleic acid

23 March 2024

17

1 reference

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene

23 March 2024

18

1 reference

Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome.

23 March 2024

19

1 reference

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

23 March 2024

21

1 reference

The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)

23 March 2024

22

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

23 March 2024

23

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Magnetic resonance imaging in MELAS syndrome

23 March 2024

24

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Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death

23 March 2024

25

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The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past

23 March 2024

26

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Pitfalls in the diagnosis of mtDNA mutations

23 March 2024

28

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A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy

23 March 2024

29

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Mitochondrial mutation in fatal infantile cardiomyopathy

23 March 2024

31

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MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA

23 March 2024

32

1 reference

A case of cardiomyopathy showing progression from the hypertrophic to the dilated form: association of Mt8348A-->G mutation in the mitochondrial tRNA(Lys) gene with severe ultrastructural alterations of mitochondria in cardiomyocytes

23 March 2024

33

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Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

23 March 2024

34

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Sequence polymorphism in the coding region of mitochondrial genome encompassing position 8389-8865.

23 March 2024

35

1 reference

Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.

23 March 2024

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Mitochondrial diseases in man and mouse

23 March 2024

37

1 reference

A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle

23 March 2024

38

1 reference

A cystic fibrosis patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disorders

23 March 2024

39

1 reference

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

23 March 2024

40

1 reference

23 March 2024

Identifiers

DOI

10.1002/MUS.10473

1 reference

9 February 2018

1 reference

9 February 2018