Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres (Q47803559)

5 February 2018

title

Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres (English)

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5 February 2018

author name string

Moslemi AR

1

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5 February 2018

Tulinius M

2

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5 February 2018

Holme E

3

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5 February 2018

Oldfors A

4

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5 February 2018

publication date

1 June 1998

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5 February 2018

published in

Neuromuscular Disorders

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5 February 2018

volume

8

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5 February 2018

issue

5

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5 February 2018

page(s)

345-349

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5 February 2018

Molecular genetic aspects of human mitochondrial disorders

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Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

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The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

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The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings.

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

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Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

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Mitochondrial DNA deletions in muscle fibers in inclusion body myositis

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Cytochrome c oxidase deficiency in infancy

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Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB).

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Sequence and organization of the human mitochondrial genome

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Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia

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Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles

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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

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Heteroplasmic mitochondrial tRNA(Lys) mutation and its complementation in MERRF patient-derived mitochondrial transformants

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Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations

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Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes

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Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres

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7 January 2021

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Identifiers

DOI

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5 February 2018

PubMed ID

9673990

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5 February 2018