A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene. (Q47803617)

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13 November 2019

title

A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene (English)

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13 November 2019

0 references

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mitochondrial myopathy

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1

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13 November 2019

author name string

M Rana

2

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13 November 2019

A DiMuzio

3

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13 November 2019

A Uncini

4

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13 November 2019

P Tonali

5

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13 November 2019

S Servidei

6

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13 November 2019

publication date

1 June 1998

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13 November 2019

published in

Neuromuscular Disorders

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13 November 2019

volume

8

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13 November 2019

issue

5

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13 November 2019

page(s)

291-295

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

13 November 2019

cites work

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7 January 2021

Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR

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7 January 2021

Sequence and organization of the human mitochondrial genome

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7 January 2021

A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study

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7 January 2021

Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics

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7 January 2021

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

1 reference

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7 January 2021

Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A → G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA

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7 January 2021

Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.

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7 January 2021

Late-onset mitochondrial myopathy

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7 January 2021

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

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7 January 2021

A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance

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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

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Identifiers

DOI

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13 November 2019

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