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Article: Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis

TitleDiagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis
Authors
KeywordsMelas Syndrome
Mitochondrial Encephalomyopathy
Mitochondrial Mutation
Issue Date1995
PublisherB M J Publishing Group. The Journal's web site is located at http://mp.bmjjournals.com/
Citation
Journal Of Clinical Pathology - Clinical Molecular Pathology, 1995, v. 48 n. 5, p. M285-M288 How to Cite?
AbstractThe clinical presentation and the biochemical and molecular genetic findings are described in a 13 year old Chinese boy with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The diagnosis was initially suspected because of the characteristic clinical features and the strong family history of convulsions. Using polymerase chain reaction-restriction enzyme analysis, the heteroplasmic nt3243 A→G mutation in mtDNA of peripheral blood leucocytes and a muscle sample was demonstrated. The oligosymptomatic relatives were then screened by this method and the degree of heteroplasmy was analysed. This appears to be the first report of a MELAS family in Hong Kong with this described mutation. Molecular genetic techniques are advantageous in the diagnosis of MELAS.
Persistent Identifierhttp://hdl.handle.net/10722/148037
ISSN

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorJain, Ken_US
dc.contributor.authorChan, KYen_US
dc.contributor.authorSilva, DKen_US
dc.contributor.authorChan, YWen_US
dc.contributor.authorWong, LJCen_US
dc.date.accessioned2012-05-29T06:10:31Z-
dc.date.available2012-05-29T06:10:31Z-
dc.date.issued1995en_US
dc.identifier.citationJournal Of Clinical Pathology - Clinical Molecular Pathology, 1995, v. 48 n. 5, p. M285-M288en_US
dc.identifier.issn1355-2910en_US
dc.identifier.urihttp://hdl.handle.net/10722/148037-
dc.description.abstractThe clinical presentation and the biochemical and molecular genetic findings are described in a 13 year old Chinese boy with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The diagnosis was initially suspected because of the characteristic clinical features and the strong family history of convulsions. Using polymerase chain reaction-restriction enzyme analysis, the heteroplasmic nt3243 A→G mutation in mtDNA of peripheral blood leucocytes and a muscle sample was demonstrated. The oligosymptomatic relatives were then screened by this method and the degree of heteroplasmy was analysed. This appears to be the first report of a MELAS family in Hong Kong with this described mutation. Molecular genetic techniques are advantageous in the diagnosis of MELAS.en_US
dc.languageengen_US
dc.publisherB M J Publishing Group. The Journal's web site is located at http://mp.bmjjournals.com/en_US
dc.relation.ispartofJournal of Clinical Pathology - Clinical Molecular Pathologyen_US
dc.subjectMelas Syndromeen_US
dc.subjectMitochondrial Encephalomyopathyen_US
dc.subjectMitochondrial Mutationen_US
dc.titleDiagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysisen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.scopuseid_2-s2.0-0028867390en_US
dc.identifier.volume48en_US
dc.identifier.issue5en_US
dc.identifier.spageM285en_US
dc.identifier.epageM288en_US
dc.publisher.placeUnited Kingdomen_US

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