A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy. (Q44122957)

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12 November 2019

title

A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy (English)

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12 November 2019

0 references

2

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12 November 2019

Robert McFarland

3

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12 November 2019

Robert William Taylor

1

object named as

Robert W Taylor

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Douglass Matthew Turnbull

12 November 2019

5

object named as

Douglass M Turnbull

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12 November 2019

author name string

Paul Maddison

4

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12 November 2019

publication date

1 October 2002

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12 November 2019

published in

Neuromuscular Disorders

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12 November 2019

volume

12

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12 November 2019

issue

7-8

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12 November 2019

page(s)

659-664

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Mitochondrial DNA and disease

12 November 2019

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A mitochondrial tRNA anticodon swap associated with a muscle disease

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

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

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7 January 2021

A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.

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7 January 2021

A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring

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Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle.

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Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates.

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The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations

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Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

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Mitochondrial mutation in fatal infantile cardiomyopathy

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Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy

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A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy.

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A novel mtDNA point mutation in maternally inherited cardiomyopathy

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An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy

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7 January 2021

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia.

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7 January 2021

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

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7 January 2021

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis

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7 January 2021

A novel mitochondrial tRNA Ile point mutation in chronic progressive external ophthalmoplegia

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7 January 2021

Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene

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7 January 2021

A pathogenic point mutation reduces stability of mitochondrial mutant tRNA(Ile)

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7 January 2021

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

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7 January 2021

Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

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7 January 2021

10.1016/S0960-8966(02)00026-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207935%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

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