Loss‐of‐function mutations of SURF‐1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency

No abstract is available for this paper.

• Publication year

  1999

• Venue

  Annals of Neurology

• Publication date

  1999-08-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/1531-8249(199908)46:2<161::AID-ANA4>3.0.CO;2-OPMID 10443880
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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

  1998cited by this paper
• A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

  1998cited by this paper
• SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

  1998cited by this paper
• A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

  1997cited by this paper
• SHY1, the Yeast Homolog of the MammalianSURF-1 Gene, Encodes a Mitochondrial Protein Required for Respiration*

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• SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT

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