(Q48612981)

13 February 2018

title

Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load. (English)

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13 February 2018

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Gregory M Enns

1

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13 February 2018

Ren-Kui Bai

series ordinal

2

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13 February 2018

Anita E Beck

series ordinal

3

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13 February 2018

Lee-Jun Wong

series ordinal

4

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13 February 2018

publication date

20 March 2006

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13 February 2018

Molecular Genetics and Metabolism

published in

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13 February 2018

volume

88

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13 February 2018

issue

4

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13 February 2018

page(s)

364-371

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13 February 2018

Clinical spectrum and diagnosis of mitochondrial disorders

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.001

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

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

7 January 2021

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Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

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

7 January 2021

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Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation

7 January 2021

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

7 January 2021

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Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation

7 January 2021

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

7 January 2021

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

7 January 2021

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

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Maternally inherited Leigh syndrome.

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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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7 January 2021

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

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7 January 2021

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7 January 2021

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The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria

7 January 2021

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High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes.

7 January 2021

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Rapid segregation of heteroplasmic bovine mitochondria

7 January 2021

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A rapid procedure for visualising the inner cell mass and trophectoderm nuclei of mouse blastocysts in situ using polynucleotide-specific fluorochromes.

7 January 2021

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

7 January 2021

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Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA

7 January 2021

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Towards reliable prenatal diagnosis of mtDNA point mutations: studies of nt8993 mutations in oocytes, fetal tissues, children and adults

7 January 2021

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Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNA

7 January 2021

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2006.02.001

1 reference

13 February 2018

1 reference

13 February 2018