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...

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Detalles Bibliográficos
Autores principales: Zhang, Ping, Wu, Bingbing, Lu, Yulan, Ni, Qi, Liu, Renchao, Zhou, Wenhao, Wang, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
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

Internet

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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