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LGMD2E with a novel nonsense variant in SGCB gene: a case of LGMD2E with a novel variant

Authors
 Yun Kyung La  ;  Eun Kyoung Oh  ;  Hyun Ji Lyou  ;  Ji Man Hong  ;  Young-Chul Choi 
Citation
 Annals of Clinical Neurophysiology, Vol.22(1) : 29-32, 2020-01 
Journal Title
 Annals of Clinical Neurophysiology 
ISSN
 2508-6960 
Issue Date
2020-01
Keywords
High-throughput nucleotide sequencing ; Sarcoglycanopathies ; SGCB
Abstract
Sarcoglycanopathies are a rare group of autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by genetic variants in α-, β-, γ-, or δ-sarcoglycan that maintain membrane integrity and contribute to molecular signal processing. High-throughput nucleotide sequencing was performed in patients with slowly progressive proximal muscle weakness from early childhood with respiratory involvement, which detected a novel homozygous nonsense variant (c.601C>T;p.Gln201Ter) in SGCB. This report informs about the clinical characteristics of LGMD2E (type-2E LGMD) in Korea and provides genetic confirmation of the disease.
Files in This Item:
T202004955.pdf Download
DOI
10.14253/acn.2020.22.1.29
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
Hong, Ji Man(홍지만) ORCID logo https://orcid.org/0000-0002-0696-8448
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/180600
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