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MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I

✍ Scribed by Lamperti, Costanza; Diodato, Daria; Lamantea, Eleonora; Carrara, Franco; Ghezzi, Daniele; Mereghetti, Paolo; Rizzi, Romana; Zeviani, Massimo


Book ID
119333634
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
634 KB
Volume
22
Category
Article
ISSN
0960-8966

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A disorder of mitochondrial energy metabolism may be missed in children with a very mild phenotype. Here, we described a patient with a moderate mental retardation and a mild exercise intolerance. This child harboured a mtDNA transition (m.6955G>A) in the subunit I of the cytochrome oxidase (MT-CO1)