To identify the molecular defect underlying a mitochondrial encephalomyopathy.
Case report of a 51 year-old woman presenting with late-onset myoclonic epilepsy plus additional features. Proband's mother presented hypothyroidism and diabetes.
Muscle biopsy showed mitochondrial changes. Respiratory chain activities were reduced. The novel G5538A mutation was identified in different tissues DNAs from the proband and from her mother.
We were able to identify a novel mtDNA tRNA(Trp) gene pathogenic mutation.