Publication: Seizures in myoclonic epilepsy with ragged-red fibers detected by DNA analysis : A case report
Issued Date
2001-07-01
Resource Type
ISSN
01252208
Other identifier(s)
2-s2.0-11244346011
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Journal of the Medical Association of Thailand. Vol.84, No.7 (2001), 1051-1055
Suggested Citation
Oraporn Sitburana, Suchart Phudhichareonrat, Rungnapa Supavilai, Rawiphan Witoonpanich, Patcharee Lertrit Seizures in myoclonic epilepsy with ragged-red fibers detected by DNA analysis : A case report. Journal of the Medical Association of Thailand. Vol.84, No.7 (2001), 1051-1055. Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/26753
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
Seizures in myoclonic epilepsy with ragged-red fibers detected by DNA analysis : A case report
Other Contributor(s)
Abstract
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 tRNAlys 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.
