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Article: Spinal muscular atrophy in Chinese

TitleSpinal muscular atrophy in Chinese
Authors
KeywordsSMA
SMNi
SMN2
Carrier testing
Children
Chinese
Issue Date2012
PublisherBiopharma Medical Multimedia.
Citation
The European Neurological Journal, 2012, v. 4 n. 2, p. 55-63 How to Cite?
AbstractSpinal muscular atrophy (SMA) is one of the common neuromuscular disorders in children. In this review,the classification, phenotype, genetics, and management strategy for Chinese SMA patients are discussed, together with insights on new treatment modalities and prospective trials. SMA is an autosomal-recessive disorder with progressive muscle weakness and fatal outcome in many severely affected cases. Thus, identification of the otherwise healthy and asymptomatic carriers is of paramount importance toward prevention of the disease by prenatal diagnosis. Carrier testing among family members and even population screening should be advocated. Different methods of carrier testing to detect heterozygous deletion of the SMNi gene, gene mutation, the 2+0 SMNi genotype, and assessment of relative gene dosage of SMNi and SMN2 are considered.
Persistent Identifierhttp://hdl.handle.net/10722/169240
ISSN
2015 SCImago Journal Rankings: 0.105

 

DC FieldValueLanguage
dc.contributor.authorChan, VNYen_US
dc.contributor.authorWong, VCNen_US
dc.date.accessioned2012-10-18T08:47:02Z-
dc.date.available2012-10-18T08:47:02Z-
dc.date.issued2012en_US
dc.identifier.citationThe European Neurological Journal, 2012, v. 4 n. 2, p. 55-63en_US
dc.identifier.issn2041-8000-
dc.identifier.urihttp://hdl.handle.net/10722/169240-
dc.description.abstractSpinal muscular atrophy (SMA) is one of the common neuromuscular disorders in children. In this review,the classification, phenotype, genetics, and management strategy for Chinese SMA patients are discussed, together with insights on new treatment modalities and prospective trials. SMA is an autosomal-recessive disorder with progressive muscle weakness and fatal outcome in many severely affected cases. Thus, identification of the otherwise healthy and asymptomatic carriers is of paramount importance toward prevention of the disease by prenatal diagnosis. Carrier testing among family members and even population screening should be advocated. Different methods of carrier testing to detect heterozygous deletion of the SMNi gene, gene mutation, the 2+0 SMNi genotype, and assessment of relative gene dosage of SMNi and SMN2 are considered.-
dc.languageengen_US
dc.publisherBiopharma Medical Multimedia.-
dc.relation.ispartofThe European Neurological Journalen_US
dc.subjectSMA-
dc.subjectSMNi-
dc.subjectSMN2-
dc.subjectCarrier testing-
dc.subjectChildren-
dc.subjectChinese-
dc.titleSpinal muscular atrophy in Chineseen_US
dc.typeArticleen_US
dc.identifier.emailChan, VNY: vnychana@hkucc.hku.hken_US
dc.identifier.emailWong, VCN: vcnwong@hku.hken_US
dc.identifier.authorityChan, VNY=rp00320en_US
dc.identifier.authorityWong, VCN=rp00334en_US
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.hkuros211508en_US
dc.identifier.volume4-
dc.identifier.issue2-
dc.identifier.spage55-
dc.identifier.epage63-
dc.publisher.placeUnited Kingdom-

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