(Q34386730)

1 August 2017

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title

Mitochondrial DNA mutations in human disease. (English)

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1 August 2017

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DiMauro S

1

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1 August 2017

Schon EA

series ordinal

2

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1 August 2017

publication date

1 January 2001

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American Journal of Medical Genetics Part A

1 August 2017

published in

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1 August 2017

volume

106

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1 August 2017

issue

1

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1 August 2017

page(s)

18-26

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Sequence and organization of the human mitochondrial genome

1 August 2017

cites work

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A case of mitochondrial myopathy, lactic acidosis and complex I deficiency

21 January 2018

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New morphological approaches to the study of mitochondrial encephalomyopathies

21 January 2018

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Relaxed replication of mtDNA: A model with implications for the expression of disease

21 January 2018

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Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II

21 January 2018

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Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA.

21 January 2018

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An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy

21 January 2018

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Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.

21 January 2018

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A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

21 January 2018

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Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

21 January 2018

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Termination of transcription in human mitochondria: identification and purification of a DNA binding protein factor that promotes termination

21 January 2018

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Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

21 January 2018

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Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

21 January 2018

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Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.

21 January 2018

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INTRAMITOCHONDRIAL FIBERS WITH DNA CHARACTERISTICS. I. FIXATION AND ELECTRON STAINING REACTIONS

21 January 2018

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Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin

21 January 2018

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Mitochondrial DNA mutations and pathogenesis

21 January 2018

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

21 January 2018

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Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice.

21 January 2018

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Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system

21 January 2018

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A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency

21 January 2018

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

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Mitochondrial DNA variation in human evolution and disease

21 January 2018

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Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation

21 January 2018

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Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.1392

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1 August 2017

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