Analysis on clinical phenotype and gene mutation of progressive myoclonic epilepsy: one case report.
Objective To investigate the features of clinical phenotype and gene mutation of progressive myoclonic epilepsy (PME). Methods and Results The main clinical features of a 43-year-old man were photosensitive seizures, progressive cerebellar ataxia and peripheral neuropathy. Skeletal muscle biopsy sho...
| Publicado en: | Chinese Journal of Contemporary Neurology & Neurosurgery Vol. 18; no. 4; pp. 272 - 278 |
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| Autores principales: | , , , |
| Formato: | case study pictorial research tracings Journal Article |
| Publicado: |
Chinese Journal of Contemporary Neurology & Neurosurgery
Apr2018
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=129399336&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 129399336 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 16726731 FDQ6 jtl: Chinese Journal of Contemporary Neurology & Neurosurgery issn: 16726731 maglogo: N pubinfo: dt: Apr2018 vid: 18 iid: 4 pid: 80951 pub: Chinese Journal of Contemporary Neurology & Neurosurgery artinfo: ui: 129399336 129399336 129399336 129399336 ppf: 272 ppct: 6 formats: fmt: @attributes: type: P tig: atl: Analysis on clinical phenotype and gene mutation of progressive myoclonic epilepsy: one case report. aug: au: SONG Xing-wang GUAN Yu-qing WU Qian-yi YI Yong-hong affil: Department of Neurology, the Second Affiliated Hospital of Guangzhou Medical University, Guangzhou 510260, Guangdong, China sug: subj: Epilepsies, Myoclonic Familial and Genetic Epilepsies, Myoclonic Diagnosis Phenotype Mutation Human Male Adult Cerebellar Ataxia Muscle, Skeletal Biopsy Epilepsies, Myoclonic Pathology DNA Blood Mitochondrial Diseases Peripheral Nervous System Diseases Adult: 19-44 years Male ab: Objective To investigate the features of clinical phenotype and gene mutation of progressive myoclonic epilepsy (PME). Methods and Results The main clinical features of a 43-year-old man were photosensitive seizures, progressive cerebellar ataxia and peripheral neuropathy. Skeletal muscle biopsy showed typical ragged - red fibers (RRF), large amount of mitochondria accumulating under the muscular membrane, and tubular or concentric mitochondrial cristae. A heterozygous c.8344A > G mutation of mitochondrial DNA (mtDNA) was identified from peripheral whole blood cells. The final diagnosis was myoclonic epilepsy with ragged-red fibers (MERRF). Conclusions PMEs are a group of disorders with similar clinical presentations and individual characteristics. The diagnosis of PME should be considered by analyzing the clinical features, pathological results and gene detection. MERRF presents highly clinical heterogeneous features. pubtype: Academic Journal doctype: case study pictorial research tracings Journal Article ougenre: Article language: Chinese refInfo: holdings: @attributes: islocal: N |
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