Novel compound heterozygous gene variants with additional potential contributory mutations in two sisters with severe scoliosis: A case report.
作者信息
Wang Huaiyuan, Li Shengjie, Chen Weiyun, Shen Jianxiong
机构信息
Department of Anesthesiology, Peking Union Medical College Hospital, Beijing 100730, China.
Biomedical Engineering Facility of National Infrastructures for Translational Medicine, Peking Union Medical College Hospital, Beijing 100730, China.
出版信息
Genes Dis. 2024 Dec 3;12(3):101477. doi: 10.1016/j.gendis.2024.101477. eCollection 2025 May.
Abstract
摘要
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本文引用的文献
1
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.与LAMA2相关的肌肉萎缩症：准确的表型分析和脑部成像在肢带型肌营养不良症诊断中的重要性。
J Neuromuscul Dis. 2023;10(1):125-133. doi: 10.3233/JND-221555.
2
SWISS-MODEL: homology modelling of protein structures and complexes.SWISS-MODEL：蛋白质结构和复合物的同源建模。
Nucleic Acids Res. 2018 Jul 2;46(W1):W296-W303. doi: 10.1093/nar/gky427.
3
Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough.遗传性肌病伴早发呼吸衰竭（HMERF）：仍然罕见，但已足够常见。
Neuromuscul Disord. 2018 Mar;28(3):268-276. doi: 10.1016/j.nmd.2017.12.002. Epub 2017 Dec 12.
4
Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy.在一例先天性肌营养不良患者中，鉴定出LAMA2、SYNE1和TTN基因的三种新型隐性突变。
Neuromuscul Disord. 2017 Nov;27(11):1018-1022. doi: 10.1016/j.nmd.2017.06.558. Epub 2017 Jul 6.
5
A regular pattern of Ig super-motifs defines segmental flexibility as the elastic mechanism of the titin chain.免疫球蛋白超基序的规则模式将节段性灵活性定义为肌联蛋白链的弹性机制。
Proc Natl Acad Sci U S A. 2008 Jan 29;105(4):1186-91. doi: 10.1073/pnas.0707163105. Epub 2008 Jan 22.
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