A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8

Abstract Background Nemaline myopathy 8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, contractures, fractures, respiratory failure and swallowing difficulties apparent at birth. Methods An affected dizygotic twin pair from a non‐consanguineous Chines...

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Autores principales:	Sheng Yi, Yue Zhang, Zailong Qin, Shang Yi, Haiyang Zheng, Jingsi Luo, Qifei Li, Jin Wang, Qi Yang, Mengting Li, Fei Chen, Qiang Zhang, Qinle Zhang, Yiping Shen
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Wiley 2021-06-01
Colección:	Molecular Genetics & Genomic Medicine
Materias:	appendicular hypertonia KLHL40 nemaline myopathy 8 pathogenic variants Southern Chinese
Acceso en línea:	https://doi.org/10.1002/mgg3.1683
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