Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy
Joint Authors
Wang, Xike
Wu, Yue
Cui, Yuxia
Wang, Nan
Folkersen, Lasse
Wang, Yuchuan
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-07-16
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness.
It is caused by mutations at over 50 known genetic loci typically from mutations in genes encoding constituents of the sarcolemmal dystrophin complex or related functions.
Herein we describe the case of two siblings with LGMD that were investigated using whole-exome sequencing followed by Sanger sequencing validation of a specific double-mutation in the TRAPPC11 gene.
Further, from parental sequencing we determined the mode of transmission, a double heterozygous mutation at the maternal and paternal alleles.
The two mutations detected have not been described in other patients.
American Psychological Association (APA)
Wang, Xike& Wu, Yue& Cui, Yuxia& Wang, Nan& Folkersen, Lasse& Wang, Yuchuan. 2018. Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy. Case Reports in Genetics،Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1143342
Modern Language Association (MLA)
Wang, Xike…[et al.]. Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy. Case Reports in Genetics No. 2018 (2018), pp.1-6.
https://search.emarefa.net/detail/BIM-1143342
American Medical Association (AMA)
Wang, Xike& Wu, Yue& Cui, Yuxia& Wang, Nan& Folkersen, Lasse& Wang, Yuchuan. Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy. Case Reports in Genetics. 2018. Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1143342
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143342