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dc.contributor.authorLiang, Wen-Chenen_US
dc.contributor.authorChou, Po-Chingen_US
dc.contributor.authorHung, Chia-Chengen_US
dc.contributor.authorSu, Yi-Ningen_US
dc.contributor.authorKan, Tsu-Minen_US
dc.contributor.authorChen, Wan-Zien_US
dc.contributor.authorHayashi, Yukiko K.en_US
dc.contributor.authorNishino, Ichizoen_US
dc.contributor.authorJong, Yuh-Jyhen_US
dc.date.accessioned2017-04-21T06:56:50Z-
dc.date.available2017-04-21T06:56:50Z-
dc.date.issued2016-03-15en_US
dc.identifier.issn0022-510Xen_US
dc.identifier.urihttp://dx.doi.org/10.1016/j.jns.2016.02.002en_US
dc.identifier.urihttp://hdl.handle.net/11536/133476-
dc.description.abstractLimb-girdle muscular dystrophy type 2D (LGMD2D), an autosomal-recessive inherited LGMD, is caused by the mutations in SGCA. SGCA encodes alpha-sarcoglycan (SG) that forms a heterotetramer with other SGs in the sarcolemma, and comprises part of the dystrophin-glycoprotein complex. The frequency of LGMD2D is variable among different ethnic backgrounds, and so far only a few patients have been reported in Asia. We identified five patients with a novel homozygous mutation of c.101G>T (p.Arg34Leu) in SGCA from a big aboriginal family ethnically consisting of two tribes in Taiwan. Patient 3 is the maternal uncle of patients 1 and 2. All their parents, heterozygous for c.101G>T, denied consanguineous marriages although they were from the same tribe. The heterozygous parents of patients 4 and 5 were from two different tribes, originally residing in different geographic regions in Taiwan. Haplotype analysis showed that all five patients shared the same mutation-associated haplotype, indicating the probability of a founder effect and consanguinity. The results suggest that the carrier rate of c.101G>T in SGCA may be high in Taiwan, especially in the aboriginal population regardless of the tribes. It is important to investigate the prevalence of LGMD2D in Taiwan for early diagnosis and treatment (C) 2016 Elsevier B.V. All rights reserved.en_US
dc.language.isoen_USen_US
dc.subjectLimb-girdle muscular dystrophy type 2Den_US
dc.subjectSarcoglycanen_US
dc.subjectSarcoglycanopathyen_US
dc.subjectThe SGCA geneen_US
dc.subjectFounder mutationen_US
dc.subjectTaiwanen_US
dc.titleProbable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwanen_US
dc.identifier.doi10.1016/j.jns.2016.02.002en_US
dc.identifier.journalJOURNAL OF THE NEUROLOGICAL SCIENCESen_US
dc.citation.volume362en_US
dc.citation.spage304en_US
dc.citation.epage308en_US
dc.contributor.department生物科技學系zh_TW
dc.contributor.department生醫工程研究所zh_TW
dc.contributor.departmentDepartment of Biological Science and Technologyen_US
dc.contributor.departmentInstitute of Biomedical Engineeringen_US
dc.identifier.wosnumberWOS:000372558400060en_US
Appears in Collections:Articles