(Q40911095)

24 September 2017

title

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

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24 September 2017

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White SL

1

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24 September 2017

Shanske S

2

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24 September 2017

McGill JJ

3

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24 September 2017

Mountain H

4

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24 September 2017

Geraghty MT

5

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24 September 2017

DiMauro S

6

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24 September 2017

Dahl HH

7

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24 September 2017

Thorburn DR

8

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24 September 2017

publication date

1 December 1999

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Journal of Inherited Metabolic Disease

24 September 2017

published in

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24 September 2017

volume

22

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24 September 2017

issue

8

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24 September 2017

page(s)

899-914

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Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

24 September 2017

cites work

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12 December 2020

Noninvasive diagnosis of the MELAS syndrome from blood DNA

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12 December 2020

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

1 reference

12 December 2020

The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families

1 reference

12 December 2020

Perinatal maturation of rat kidney mitochondria

1 reference

12 December 2020

A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle

1 reference

12 December 2020

Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation

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12 December 2020

Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy

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12 December 2020

Analysis of pyruvate dehydrogenase expression in embryonic mouse brain: localization and developmental regulation

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12 December 2020

Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP Syndrome

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12 December 2020

Mitochondrial biogenesis in the liver during development and oncogenesis.

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12 December 2020

Maternally inherited Leigh syndrome.

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12 December 2020

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

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12 December 2020

A T-to-G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome

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12 December 2020

Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous

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12 December 2020

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

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12 December 2020

Mitochondrial DNA mutation and Leigh's syndrome

1 reference

12 December 2020

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome

1 reference

12 December 2020

Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation

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12 December 2020

Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA

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12 December 2020

Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain

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12 December 2020

Mammalian adaptation to extrauterine environment: mitochondrial functional impairment caused by prematurity

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12 December 2020

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

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12 December 2020

Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation

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12 December 2020

De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring

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12 December 2020

Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows

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12 December 2020

Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome

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12 December 2020

Enzyme activities of the mitochondrial energy generating system in skeletal muscle tissue of preterm and fullterm neonates

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12 December 2020

Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family

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12 December 2020

Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation

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12 December 2020

Leigh syndrome associated with mitochondrial DNA 8993 T-->G mutation and ragged-red fibers

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12 December 2020

A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues.

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12 December 2020

Prenatal diagnosis of mitochondrial DNA8993 T----G disease

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12 December 2020

MtDNA and nuclear mutations affecting oxidative phosphorylation: correlating severity of clinical defect with extent of bioenergetic compromise

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12 December 2020

Kearns-Sayre syndrome with muscle mitochondrial DNA deletion

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12 December 2020

Leigh syndrome resulting from de novo mutation at position 8993 of mitochondrial DNA

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12 December 2020

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

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12 December 2020

1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging

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12 December 2020

Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation

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12 December 2020

Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome

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12 December 2020

Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues

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12 December 2020

Brain and muscle energy metabolism studied in vivo by 31P-magnetic resonance spectroscopy in NARP syndrome

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12 December 2020

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

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12 December 2020

Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.

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12 December 2020

Different restriction fragment pattern of mtDNA indicative of generalized 8993 point mutations in a boy with lactic acidosis

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12 December 2020

Postnatal mitochondrial differentiation in rat liver. Regulation by thyroid hormones of the beta-subunit of the mitochondrial F1-ATPase complex

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12 December 2020

KEARNS-SAYRE SYNDROME WITH MUSCLE MITOCHONDRIAL DNA DELETION

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Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005639407166

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1005639407166

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Dimensions Publication ID

24 September 2017

1017691013

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