LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation (Q56657972)

Douglass Matthew Turnbull

8

object named as

Robert W Taylor

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7

object named as

Douglass M Turnbull

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Rajith de Silva

2

object named as

Rajith de Silva

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author name string

Andrew King

3

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Verena Schwarzer

4

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Tim Harrower

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Gervase Dawidek

European Journal of Human Genetics

6

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publication date

12 January 2005

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published in

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volume

13

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page(s)

623-627

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issue

5

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exact match

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201363

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cites work

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A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

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Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

21 January 2018

1 reference

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A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients

21 January 2018

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An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

21 January 2018

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Mutations of the mitochondrial ND1 gene as a cause of MELAS.

21 January 2018

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A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

21 January 2018

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Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

21 January 2018

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The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations

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Mitochondrial DNA mutations in human disease.

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The diagnosis of mitochondrial muscle disease.

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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Leber hereditary optic neuropathy

21 January 2018

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Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

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inferred from DOI database lookup

7 January 2021

based on heuristic

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201363