Poole, OV;
Everett, CM;
Gandhi, S;
Marino, S;
Bugiardini, E;
Woodward, C;
Lam, A;
... Pitceathly, RDS; + view all
(2019)
Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.
Mitochondrion
, 47
pp. 294-297.
10.1016/j.mito.2019.02.004.
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Abstract
Adult-onset Leigh syndrome is a rare but important manifestation of mitochondrial disease. We report a 17 year old female who presented with subacute encephalopathy, brainstem and extrapyramidal signs, raised CSF lactate, and symmetrical hyperintensities in the basal ganglia on T2-weighted cerebral MRI. The presence of cytochrome c oxidase deficient fibres in muscle tissue prompted sequencing of the entire mitochondrial genome which revealed the novel stop codon mutation m.6579G>A; p.Gly226X in MT-CO1. Here we present the case and review the clinicopathological and molecular spectrum of previously reported MT-CO1 truncating mutations.
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