First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant

First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant

Abstract 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 w...

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Bibliographic Details
Main Authors: Ping Zhang, Bingbing Wu, Yulan Lu, Qi Ni, Renchao Liu, Wenhao Zhou, Huijun Wang
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
congenital myasthenic syndrome 22
uniparental disomy
PREPL gene
pyridostigmine treatment
Online Access:https://doi.org/10.1002/mgg3.1144

Internet

https://doi.org/10.1002/mgg3.1144

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