(Q50752065)

18 March 2018

title

Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations. (English)

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18 March 2018

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9

Salvatore DiMauro

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18 March 2018

2

Sabrina Sacconi

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18 March 2018

author name string

Stacey K H Tay

1

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18 March 2018

H Ohran Akman

3

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18 March 2018

Judith F Morales

4

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18 March 2018

Augusto Morales

5

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18 March 2018

Darryl C De Vivo

6

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Sara Shanske

7

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18 March 2018

Eduardo Bonilla

8

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18 March 2018

publication date

1 August 2005

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18 March 2018

Journal of Child Neurology

published in

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18 March 2018

volume

20

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18 March 2018

issue

8

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18 March 2018

page(s)

670-674

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18 March 2018

Subacute necrotizing encephalomyelopathy in an infant

cites work

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Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature

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Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200080701

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200080701

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

21 January 2018

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Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

21 January 2018

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Conservation of the organization of five tightly clustered genes over 600 million years of divergent evolution

21 January 2018

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21 January 2018

The human Surfeit locus

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200080701

SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200080701

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions

21 January 2018

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Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast

21 January 2018

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Clinical spectrum and diagnosis of mitochondrial disorders

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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

21 January 2018

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Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

21 January 2018

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A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

21 January 2018

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Cytochrome c oxidase deficiency in Leigh syndrome

21 January 2018

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Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

21 January 2018

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New splicing-site mutations in the SURF1 gene in Leigh syndrome patients

21 January 2018

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SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200080701

SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738050200080701

Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy

21 January 2018

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Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

21 January 2018

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10.1177/08830738050200080701

21 January 2018

Identifiers

DOI

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18 March 2018

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18 March 2018