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First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant
BACKGROUND: Congenital myasthenic syndrome 22 (CMS22) is a rare autosomal recessive disorder due to isolated PREPL deficiency and characterized by neonatal hypotonia, muscular weakness, and feeding difficulties. Eight such cases have already been reported, while maternal uniparental disomy with a PR...
Autores principales: | Zhang, Ping, Wu, Bingbing, Lu, Yulan, Ni, Qi, Liu, Renchao, Zhou, Wenhao, Wang, Huijun |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057094/ https://www.ncbi.nlm.nih.gov/pubmed/31985178 http://dx.doi.org/10.1002/mgg3.1144 |
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