A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family

Abstract Background Distal arthrogryposis (DA) is a group of congenital autosomal‐dominant disorders secondary to defects in joint and muscle function, characterized by multiple joint contractures of the hands and feet. DA can be divided into 10 types according to clinical features. DA has been conf...

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Bibliographic Details
Main Authors: Yue Li, Tianying Nong, Yiqiang Li, Xia Li, Zhaohui Li, Hui Lv, Hongwen Xu, Jingchun Li, Mingwei Zhu
Format: Article
Language:English
Published: Wiley 2022-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.2042