Late-onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene

Affiliations

¹ Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
² Division of Neurology, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.

Case Reports

Kazushi Ichikawa et al. Pediatr Int. 2019 Oct.

. 2019 Oct;61(10):1055-1056.

doi: 10.1111/ped.13991. Epub 2019 Oct 18.

¹ Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
² Division of Neurology, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.

No abstract available

Keywords: ATPase 6; Leigh syndrome; mitochondrial DNA; ophthalmoplegia; ptosis.

References

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1. Dionisi-Vici C, Seneca S, Zeviani M et al. Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. J. Inherit. Metab. Dis. 1998; 21: 2-8.
1. Campos Y, Martín MA, Rubio JC et al. Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. Neurology 1997; 49: 595-7.
1. Akagi M, Inui K, Tsukamoto H et al. A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome. Neuromuscul. Disord. 2002; 12: 53-5.
1. Chuquilin M, Govindarajan R, Peck D, Font-Montgomery E. Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation. Mol. Genet. Metab. Rep. 2016; 8: 28-32.