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Items: 3

1.

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M.

Am J Hum Genet. 2004 Feb;74(2):239-52. Epub 2004 Jan 19.

2.

Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches.

Di Meo I, Lamperti C, Tiranti V.

EMBO Mol Med. 2015 Oct;7(10):1257-66. doi: 10.15252/emmm.201505040. Review.

3.

Recent advances in the genetics of mitochondrial encephalopathies.

Tucker EJ, Compton AG, Thorburn DR.

Curr Neurol Neurosci Rep. 2010 Jul;10(4):277-85. doi: 10.1007/s11910-010-0112-8. Review.

PMID:
20446063

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