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Whole-exome sequencing identifies mutations in in a mild form of Carey-Fineman-Ziter syndrome.

作者信息

Alrohaif Hadil, Töpf Ana, Evangelista Teresinha, Lek Monkol, McArthur Daniel, Lochmüller Hanns

机构信息

MRC Centre for Neuromuscular Diseases (H.A., A.T., T.E., H.L.), Institute of Genetic Medicine, Newcastle University, England. Dr. Lochmüller is now with Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Germany; Analytic and Translational Genetics Unit (M.L., D.M.), Massachusetts General Hospital, Boston; and Program in Medical and Population Genetics (M.L., D.M.), Broad Institute of Harvard and MIT, Cambridge, MA.

出版信息

Neurol Genet. 2018 Mar 19;4(2):e226. doi: 10.1212/NXG.0000000000000226. eCollection 2018 Apr.

DOI:10.1212/NXG.0000000000000226
PMID:29560417
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5858950/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/862f/5858950/f0185b4da53b/NG2017006973FF2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/862f/5858950/fc9464b3188a/NG2017006973FF1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/862f/5858950/f0185b4da53b/NG2017006973FF2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/862f/5858950/fc9464b3188a/NG2017006973FF1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/862f/5858950/f0185b4da53b/NG2017006973FF2.jpg

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本文引用的文献

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2
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.在具有凯里-费曼-齐特综合征和默比厄斯综合征重叠特征的非美洲原住民家庭中鉴定STAC3变异体。
Am J Med Genet A. 2017 Oct;173(10):2763-2771. doi: 10.1002/ajmg.a.38375. Epub 2017 Aug 4.
3
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
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Acta Neuropathol Commun. 2024 May 24;12(1):80. doi: 10.1186/s40478-024-01783-2.
4
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5
Regulation of the myoblast fusion reaction for muscle development, regeneration, and adaptations.肌肉发育、再生和适应过程中肌母细胞融合反应的调控。
Exp Cell Res. 2022 Jun 15;415(2):113134. doi: 10.1016/j.yexcr.2022.113134. Epub 2022 Mar 31.
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Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.定义和识别肌肉疾病中的卫星细胞病变。
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