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Article: Maternally inherited leigh syndrome: An unusual cause of infantile apnea

TitleMaternally inherited leigh syndrome: An unusual cause of infantile apnea
Authors
KeywordsApnea
Encephalopathy
Leigh disease
Mitochondrial diseases
Mutation
Issue Date2010
PublisherSpringer Verlag. The Journal's web site is located at http://www.springer.com/medicine/internal/journal/11325
Citation
Sleep And Breathing, 2010, v. 14 n. 2, p. 161-165 How to Cite?
AbstractIntroduction Leigh Syndrome is an uncommon cause of infantile apnea.Case summary We report a 5-month-old girl with suddenrespiratory arrest followed by episodic hyper- and hypoventilation,encephalopathy, and persistent lactic acidosis.Computed tomography of the brain revealed symmetric low densities over the basal ganglia, internal capsule, thalami,and midbrain. Cardiac echocardiogram was suggestive of hypertrophic cardiomyopathy.Discussion Diagnosis of Leigh syndrome due to T8993G mutation was confirmed with polymerase chain reaction and direct DNA sequencing of mitochondrial genome. To our knowledge, this is the first report of proven maternally inherited Leigh syndrome in Hong Kong. © Springer-Verlag 2009.
Persistent Identifierhttp://hdl.handle.net/10722/129515
ISSN
2015 Impact Factor: 2.332
2015 SCImago Journal Rankings: 0.832
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChau, CSKen_HK
dc.contributor.authorKwok, KLen_HK
dc.contributor.authorNg, DKen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorTong, SFen_HK
dc.contributor.authorChan, YWen_HK
dc.contributor.authorSiu, WKen_HK
dc.contributor.authorYuen, YPen_HK
dc.date.accessioned2010-12-23T08:38:20Z-
dc.date.available2010-12-23T08:38:20Z-
dc.date.issued2010en_HK
dc.identifier.citationSleep And Breathing, 2010, v. 14 n. 2, p. 161-165en_HK
dc.identifier.issn1520-9512en_HK
dc.identifier.urihttp://hdl.handle.net/10722/129515-
dc.description.abstractIntroduction Leigh Syndrome is an uncommon cause of infantile apnea.Case summary We report a 5-month-old girl with suddenrespiratory arrest followed by episodic hyper- and hypoventilation,encephalopathy, and persistent lactic acidosis.Computed tomography of the brain revealed symmetric low densities over the basal ganglia, internal capsule, thalami,and midbrain. Cardiac echocardiogram was suggestive of hypertrophic cardiomyopathy.Discussion Diagnosis of Leigh syndrome due to T8993G mutation was confirmed with polymerase chain reaction and direct DNA sequencing of mitochondrial genome. To our knowledge, this is the first report of proven maternally inherited Leigh syndrome in Hong Kong. © Springer-Verlag 2009.en_HK
dc.languageengen_US
dc.publisherSpringer Verlag. The Journal's web site is located at http://www.springer.com/medicine/internal/journal/11325 en_HK
dc.relation.ispartofSleep and Breathingen_HK
dc.rightsThe original publication is available at www.springerlink.com-
dc.subjectApneaen_HK
dc.subjectEncephalopathyen_HK
dc.subjectLeigh diseaseen_HK
dc.subjectMitochondrial diseasesen_HK
dc.subjectMutationen_HK
dc.subject.meshBrain - pathology-
dc.subject.meshChromosomes, Human, X - genetics-
dc.subject.meshDNA Mutational Analysis-
dc.subject.meshDNA, Mitochondrial - genetics-
dc.subject.meshLeigh Disease - diagnosis - genetics - pathology-
dc.titleMaternally inherited leigh syndrome: An unusual cause of infantile apneaen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1520-9512&volume=14&issue=2&spage=161&epage=165&date=2010&atitle=Maternally+inherited+Leigh+syndrome:+an+unusual+cause+of+infantile+apnea-
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1007/s11325-009-0288-9en_HK
dc.identifier.pmid19669818-
dc.identifier.scopuseid_2-s2.0-77954758784en_HK
dc.identifier.hkuros176800en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77954758784&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume14en_HK
dc.identifier.issue2en_HK
dc.identifier.spage161en_HK
dc.identifier.epage165en_HK
dc.identifier.isiWOS:000279605400012-
dc.publisher.placeGermanyen_HK
dc.identifier.citeulike5444540-

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