Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3. (Q43142772)

14 November 2017

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3. (English)

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14 November 2017

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7

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PubMed ID

20202874

14 November 2017

Esther Leshinsky-Silver

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1

object named as

Esther Leshinsky-Silver

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Tally Lerman-Sagie

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6

object named as

Tally Lerman-Sagie

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14 November 2017

3

Gustavo Malinger

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14 November 2017

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Dorit Lev

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14 November 2017

Daniel Shapira

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PubMed ID

20202874

14 November 2017

Sarit Cohen

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5

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14 November 2017

10 February 2010

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Molecular Genetics and Metabolism

14 November 2017

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14 November 2017

100

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1

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65-70

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Subacute necrotizing encephalomyelopathy in an infant

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Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

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Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.

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Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease

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Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene

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Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies

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A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.

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Clinical features and neuroradiological findings of mitochondrial pathology in six neonates.

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10.1016/J.YMGME.2010.02.002

7 January 2021

Identifiers

DOI

1 reference

14 November 2017

1 reference

PubMed ID

20202874