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

ConclusionTo date, nine patients with CMS22 have been reported including our patient, and we report the youngest and the first UPD(2)mat withPREPL novel homozygous pathogenic mutation case, which expand the mutation spectrum ofPREPL gene.

Source: Molecular Genetics & Genomic Medicine - January 26, 2020 Category: Genetics & Stem Cells Authors: Ping Zhang, Bingbing Wu, Yulan Lu, Qi Ni, Renchao Liu, Wenhao Zhou, Huijun Wang Tags: CLINICAL REPORT Source Type: research