PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus

PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus

Prolyl endopeptidase-like (PREPL) deficiency (MIM 616224) is a very rare congenital disorder characterized by neonatal hypotonia and feeding difficulties, ptosis, neuromuscular symptoms, cognitive impairments, growth hormone deficiency, short stature, and hypergonadotropic hypogonadism. This syndrom...

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Bibliographic Details
Main Authors: Qi Yang, Rong Hua, Jiale Qian, Shang Yi, Fei Shen, Qiang Zhang, Mengting Li, Sheng Yi, Jingsi Luo, Xin Fan
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-03-01
Series:Frontiers in Genetics
Subjects:
PREPL mutation
PREPL deficiency
absence of ovaries and hypoplasia of uterus
congenital myasthenic syndrome
PREPL gene
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00198/full

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https://www.frontiersin.org/article/10.3389/fgene.2020.00198/full

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