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Article: Mutation of Gene in Spinal Muscular Atrophy Respiratory Distress Type I

TitleMutation of Gene in Spinal Muscular Atrophy Respiratory Distress Type I
Authors
Issue Date2006
PublisherElsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/pedneu
Citation
Pediatric Neurology, 2006, v. 34 n. 6, p. 474-477 How to Cite?
AbstractSpinal muscular atrophy with respiratory distress type I (SMARD1, MIM #604 320) is an uncommon variant of infantile spinal muscular atrophy type I. Distinguishing features include diaphragmatic palsy, early-onset distal limb wasting, and contracture. This report describes a Chinese male with typical features of spinal muscular atrophy with respiratory distress type I. Direct sequencing of the causative gene, the immunoglobulin mu-binding protein 2 (IGHMBP2) gene, revealed the presence of a novel frameshift mutation caused by deletion of G in exon 13 and a single base pair substitution of G to A in exon 12 resulting in substitution of isoleucine for valine. © 2006 Elsevier Inc. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/143525
ISSN
2015 Impact Factor: 1.866
2015 SCImago Journal Rankings: 0.819
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorWong, VCNen_HK
dc.contributor.authorChung, BHYen_HK
dc.contributor.authorLi, Sen_HK
dc.contributor.authorGoh, Wen_HK
dc.contributor.authorLEE, SLen_HK
dc.date.accessioned2011-12-12T03:51:31Z-
dc.date.available2011-12-12T03:51:31Z-
dc.date.issued2006en_HK
dc.identifier.citationPediatric Neurology, 2006, v. 34 n. 6, p. 474-477en_HK
dc.identifier.issn0887-8994en_HK
dc.identifier.urihttp://hdl.handle.net/10722/143525-
dc.description.abstractSpinal muscular atrophy with respiratory distress type I (SMARD1, MIM #604 320) is an uncommon variant of infantile spinal muscular atrophy type I. Distinguishing features include diaphragmatic palsy, early-onset distal limb wasting, and contracture. This report describes a Chinese male with typical features of spinal muscular atrophy with respiratory distress type I. Direct sequencing of the causative gene, the immunoglobulin mu-binding protein 2 (IGHMBP2) gene, revealed the presence of a novel frameshift mutation caused by deletion of G in exon 13 and a single base pair substitution of G to A in exon 12 resulting in substitution of isoleucine for valine. © 2006 Elsevier Inc. All rights reserved.en_HK
dc.languageengen_US
dc.publisherElsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/pedneuen_HK
dc.relation.ispartofPediatric Neurologyen_HK
dc.subject.meshDNA-Binding Proteins/*geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.subject.meshMutation/*geneticsen_US
dc.subject.meshRespiratory Insufficiency/*geneticsen_US
dc.subject.meshSpinal Muscular Atrophies of Childhood/complications/*diagnosis/*geneticsen_US
dc.subject.meshTranscription Factors/*geneticsen_US
dc.titleMutation of Gene in Spinal Muscular Atrophy Respiratory Distress Type Ien_HK
dc.typeArticleen_HK
dc.identifier.emailWong, VCN:vcnwong@hku.hken_HK
dc.identifier.emailChung, BHY:bhychung@hku.hken_HK
dc.identifier.authorityWong, VCN=rp00334en_HK
dc.identifier.authorityChung, BHY=rp00473en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.pediatrneurol.2005.10.022en_HK
dc.identifier.pmid16765827-
dc.identifier.scopuseid_2-s2.0-33744789163en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33744789163&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume34en_HK
dc.identifier.issue6en_HK
dc.identifier.spage474en_HK
dc.identifier.epage477en_HK
dc.identifier.isiWOS:000238745500010-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridWong, VCN=7202525632en_HK
dc.identifier.scopusauthoridChung, BHY=7203043997en_HK
dc.identifier.scopusauthoridLi, S=12240088100en_HK
dc.identifier.scopusauthoridGoh, W=7005651404en_HK
dc.identifier.scopusauthoridLEE, SL=8708381600en_HK

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