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

摘要

Congenital myasthenic syndrome 22 (CMS22) is a rare autosomal recessive disorder due to isolated deficiency and characterized by neonatal hypotonia, muscular weakness, and feeding difficulties. Eight such cases have already been reported, while maternal uniparental disomy with a pathogenic mutation has never been involved.