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Article

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

Neuromuscular disorders : NMD - 1 Nov 2012

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

Abstract excerpt

We report a 35-year-old woman presenting a stroke-like episode with transitory aphasia followed by generalized tonic-clonic seizures. She had severe hearing loss and suffered from frequent episodes of migraine. Although a brain MRI disclosed a T2-hyperintense lesion in the left parietal lobe, she had hardly any long-term sequela. Exercise intolerance, myalgias and limb-girdle muscle weakness indicated a slowly...

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Identifiers

PMID: 22832341
DOI: 10.1016/j.nmd.2012.06.003

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