Chen Qian, Zheng Wen, Xu Hongbo, Yang Yan, Song Zhi, Yuan Lamei, Deng Hao
Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
Department of Pathology, The Third Xiangya Hospital, Central South University, Changsha, China.
Front Neurosci. 2021 Mar 4;15:601757. doi: 10.3389/fnins.2021.601757. eCollection 2021.
Limb-girdle muscular dystrophies (LGMD) are hereditary genetic disorders characterized by progressive muscle impairment which predominantly include proximal muscle weaknesses in the pelvic and shoulder girdles. This article describes an attempt to identify genetic cause(s) for a LGMD pedigree via a combination of whole exome sequencing and Sanger sequencing. Digenic variants, the titin gene () c.19481T>G (p.Leu6494Arg) and the trafficking protein particle complex 11 gene () c.3092C>G (p.Pro1031Arg), co-segregated with the disease phenotype in the family, suggesting their possible pathogenicity.
肢带型肌营养不良症（LGMD）是一种遗传性基因疾病，其特征为进行性肌肉损伤，主要表现为骨盆带和肩胛带近端肌肉无力。本文描述了通过全外显子组测序和桑格测序相结合的方法，试图确定一个LGMD家系的遗传病因。双基因变异，即肌联蛋白基因（）c.19481T>G（p.Leu6494Arg）和转运蛋白颗粒复合体11基因（）c.3092C>G（p.Pro1031Arg），与该家族中的疾病表型共分离，提示它们可能具有致病性。
