Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8

Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8

Abstract Background Homozygous or compound heterozygous variants in the KLHL40 gene cause nemaline myopathy 8 (NEM8), a severe autosomal recessive muscle disorder characterized by prenatal polyhydramnios, fetal akinesia or hypokinesia, joint contractures, fractures, respiratory failure and dysphagia...

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Bibliographic Details
Main Authors: Haiming Yuan, Qingming Wang, Xiumei Zeng, Peiqing He, Wanfang Xu, Hongmei Guo, Yanhui Liu, Yangyang Lin
Format: Article
Language:English
Published: BMC 2022-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
KLHL40
Nemaline myopathy
Polyhydramnios
Fetal akinesia
Respiratory failure
Carrier screening
Online Access:https://doi.org/10.1186/s13023-022-02306-9

Internet

https://doi.org/10.1186/s13023-022-02306-9

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