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...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2022-12-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.2042 |