Concepedia

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations

Junpei Tanigawa, Kaori Kaneko, Masakazu Honda, Hiroko Harashima, Kei Murayama, Takahito Wada, Kyoko Takano, Mizue Iai, Sumimasa Yamashita, Hiroko Shimbo,

Brain and Development · 2012 · 15 citations · 9 references

DOI

Concepts

References

9

Leigh syndrome: Clinical features and biochemical and DNA abnormalities

S. Rahman, Rozanne B. Blok, H H Dahl et al. · Annals of Neurology · 1996 · 780 citations

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

Zhiqing Zhu, Jianbo Yao, Timothy Johns et al. · Nature Genetics · 1998 · 625 citations

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NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

Denise M. Kirby, Renato Salemi, Canny Sugiana et al. · Journal of Clinical Investigation · 2004 · 187 citations · Full text

, , +17

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

Brian H. Robinson, Harriet L. MacMillan, Roumyana Petrova-Benedict et al. · The Journal of Pediatrics · 1987 · 182 citations

, , +16

Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency

Marek Böhm, Ewa Pronicka, Elżbieta Karczmarewicz et al. · Pediatric Research · 2005 · 109 citations · Full text

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