A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional
Edoardo Malfatti1, Elena Cardaioli, Carla Battisti
1Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy.
Background:
Mitochondrial diseases due to mitochondrial tRNA genes mutations are usually multisystem disorders with infantile or adult onset.
Objective:
To identify the molecular defect underlying a mitochondrial encephalomyopathy.
Methods/Patients:
Case report of a 51year-old woman presenting with late-onset myoclonic epilepsy plus additional features. Proband's mother presented hypothyroidism and diabetes.
Results:
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.
Conclusion:
We were able to identify a novel mtDNA tRNA((Trp)) gene pathogenic mutation.
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