(NBK1173 OR NBK1203 OR NBK1224 OR NBK320989) - Books - NCBI

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Results in this book: 4

GeneReviews® [Internet].

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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GeneReviews by Title GeneReviews Advanced Search Help

Select item 14680381.

Single Large-Scale Mitochondrial DNA Deletion Syndromes.

Goldstein A, Falk MJ. 2003 Dec 17 [Updated 2023 Sep 28].

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Select item 14746042.

Mitochondrial DNA-Associated Leigh Syndrome and NARP.

Thorburn DR, Rahman J, Rahman S. 2003 Oct 30 [Updated 2023 May 4].

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Select item 41238783.

Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview.

Rahman S, Thorburn D. 2015 Oct 1 [Updated 2020 Jul 16].

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Select item 14605404.

Primary Mitochondrial Disorders Overview.

Chinnery PF. 2000 Jun 8 [Updated 2021 Jul 29].

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Figure 1.

The human mitochondrial genome

Primary Mitochondrial Disorders Overview.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
Figure 2.

Predicted recurrence risks (95% CI) for NARP or Leigh syndrome caused by the mtDNA m.8993T>G or m.8993T>C variant based on the mother's measured proportion of abnormal mtDNA (mutant load) in blood [White et al 1999a]

Mitochondrial DNA-Associated Leigh Syndrome and NARP.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
Figure 1.

Estimated probability of a severe outcome (95% CI) for an individual with the mtDNA m.8993T>G or m.8993T>C variant, based on the proportion of abnormal mtDNA (mutant load) in the individual. A severe outcome is defined as severe symptoms of NARP or Leigh syndrome and probability is calculated using a logistic regression model described in White et al [1999a]. Note that the risk of developing severe symptoms is minimal: below the approximate threshold values of 50% for m.8993T>G and 75% for m.8993T>C.

Mitochondrial DNA-Associated Leigh Syndrome and NARP.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.

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