MYH7, c.2011C>T, is responsible for congenital scoliosis in a Chinese family

MYH7, c.2011C>T, is responsible for congenital scoliosis in a Chinese family

Neuromuscular scoliosis can be caused by muscular or nervous system dysfunction resulting from genetic variants. Variation in MYH7 may cause hypertrophic or dilated cardiomyopathy, skeletal myopathies, or a combination of both; however, scoliosis has rarely been reported. We analyzed a Chinese pedig...

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Bibliographic Details
Main Authors: Ping Wei, Fulong Xu, Caixia Xian, Yanhan Liu, Yibo Xu, Ting Zhang, Weizhe Shi, Sihong Huang, Xiang Zhou, Mingwei Zhu, Hongwen Xu
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Biochemistry and Biophysics Reports
Subjects:
Neuromuscular scoliosis
Skeletal myopathy
Whole-exome sequencing
MYH7
Online Access:http://www.sciencedirect.com/science/article/pii/S2405580824002097
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