The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages (Q70549709)

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12 October 2019

title

The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8428629%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

author name string

C Münscher

1

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12 October 2019

T Rieger

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8428629%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

J Müller-Höcker

3

1 reference

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12 October 2019

B Kadenbach

4

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12 October 2019

language of work or name

English

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publication date

1 February 1993

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12 October 2019

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12 October 2019

volume

317

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12 October 2019

issue

1-2

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12 October 2019

page(s)

27-30

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Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

12 October 2019

cites work

1 reference

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

21 January 2018

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

21 January 2018

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Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)

21 January 2018

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Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseases

21 January 2018

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Mutations of mitochondrial DNA and human death

21 January 2018

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Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: an age-related alteration

21 January 2018

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Detection of a specific mitochondrial DNA deletion in tissues of older humans

21 January 2018

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Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescence

21 January 2018

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Age-dependent increase in deleted mitochondrial DNA in the human heart: possible contributory factor to presbycardia

21 January 2018

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Quantitative analysis of age-associated accumulation of mitochondrial DNA with deletion in human hearts

21 January 2018

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Ageing-associated 5 kb deletion in human liver mitochondrial DNA.

21 January 2018

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Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

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Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy

21 January 2018

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Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy

21 January 2018

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Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR.

21 January 2018

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Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases

21 January 2018

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Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia

21 January 2018

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Direct haplotyping of chromosomal segments from multiple heterozygotes via allele-specific PCR amplification

21 January 2018

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Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

21 January 2018

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Sequence and organization of the human mitochondrial genome

21 January 2018

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'Touchdown' PCR to circumvent spurious priming during gene amplification

21 January 2018

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Identification of point mutations by mispairing PCR as exemplified in MERRF disease

21 January 2018

1 reference

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10.1016/0014-5793(93)81484-H

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8428629%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

1 reference