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Case ReportOpen Access
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
,
Witoonpanich R ,
Phudhichareonrat S ,
Lertrit P ,
Supavilai R 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 tRNAIY' 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.
Key word : Seizures, Ataxia, Myoclonic Epilepsy with Ragged-Red Fibers
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 tRNAIY' 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.
Key word : Seizures, Ataxia, Myoclonic Epilepsy with Ragged-Red Fibers
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