Seizures in myoclonic epilepsy with ragged-red fibers detected by DNA analysis: a case report
Sitburana, O.; Witoonpanich, R.; Phudhichareonrat, S.; Lertrit, P.; Supavilai, R.
Journal of the Medical Association of Thailand 84(7): 1051-1055
2001
ISSN/ISBN: 0125-2208 PMID: 11759966 Document Number: 7589
A 19-year-old Thai woman presented with progressive ataxia and generalized tonic-clonic seizures. Later on, she developed status epilepticus. Blood was tested by molecular DNA analysis which showed A8344G mitochondrial DNA mutation associated with myoclonic epilepsy with ragged-red fibers (MERRF). We confirmed this finding in other members of this family. This is an interesting case report in Thailand of MERRF identified to have A-->G transition mutation at nucleotide 8344 of mitochondrial tRNA(lys) gene without ragged-red fibers from histopathologic studies of muscle. Molecular genetic analysis in suspicious cases of mitochondrial disorders is necessary for proper management and genetic counseling.
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