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MERRF syndrome without ragged-red fibers: The need for molecular diagnosis
- Publication Year :
- 2007
-
Abstract
- We report a patient with myoclonic epilepsy who underwent muscle biopsy for suspected mitochondrial disease (myoclonic epilepsy with ragged-red fibers, MERRF). In spite of normal histochemical studies and of the absence of a severe COX deficiency, the molecular analysis showed the common MERRF mutation (A8344G) in the tRNA(Lys) gene on mitochondrial DNA. The case serves to illustrate the importance of pursuing the proposed mitochondrial genetic abnormality, even in patients with normal biopsy findings.
- Subjects :
- Adult
Male
Pathology
medicine.medical_specialty
Mitochondrial DNA
Levetiracetam
Genetic testing
Adolescent
Mitochondrial disease
Biophysics
Biology
medicine.disease_cause
Ragged-red fibers
Biochemistry
MERRF
medicine
Humans
Child
Molecular Biology
Mutation
Muscle biopsy
medicine.diagnostic_test
mtDNA
MERRF syndrome
Cell Biology
medicine.disease
Piracetam
Molecular biology
MERRF Syndrome
Muscle Fibers, Fast-Twitch
Myoclonic epilepsy
Subjects
Details
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....15689f8603d4179ffa9a90b129e83ac4