A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency-Reference-Cited by-同舟云学术

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A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

Published:2000-08 Issue:6 Volume:10 Page:450-453
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Santoro L,Carrozzo R,Malandrini A,Piemonte F,Patrono C,Villanova M,Tessa A,Palmeri S,Bertini E,Santorelli F.M

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference13 articles.

1. Subacute necrotizing encephalomyelopathy in an infant;Leigh;J Neurol Neurosurg Psychiatry,1951

2. Genetic heterogeneity in Leigh syndrome;DiMauro;Ann Neurol,1996

3. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome;Zhu;Nat Genet,1998

4. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency;Tiranti;Am J Hum Genet,1998

5. SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration;Mashkevich;J Biol Chem,1997

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