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

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. Curren...

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Detalles Bibliográficos
Autores principales: Yuan, Haiming, Wang, Qingming, Zeng, Xiumei, He, Peiqing, Xu, Wanfang, Guo, Hongmei, Liu, Yanhui, Lin, Yangyang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8981653/
https://www.ncbi.nlm.nih.gov/pubmed/35379254
http://dx.doi.org/10.1186/s13023-022-02306-9

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