1.
Mitochondrion
; 47: 294-297, 2019 07.
Article
in English
| MEDLINE
| ID: mdl-30743023
ABSTRACT
Adult-onset Leigh syndrome is a rare but important manifestation of mitochondrial disease. We report a 17â¯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.