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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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| http://dx.doi.org/10.1016/j.jns.2010.06.009 | DOI Listing |
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