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Article

The second point mutation in PREPL: a case report and literature review.

Journal of human genetics - 1 May 2018

Silva Sebastian, Miyake Noriko, Tapia Carolina, Matsumoto Naomichi

Abstract excerpt

Prolyl endopeptidase-like (PREPL) deficiency (MIM# 616224) is a rare autosomal recessive inherited congenital myasthenic syndrome characterized by neonatal hypotonia, feeding problems, mild dysmorphism, and neuromuscular symptoms, followed by hyperphagia and obesity in later childhood. Some patients also exhibit growth deficits, sexual hormone deficiency, and cognitive impairments. This syndrome is caused by...

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Identifiers

PMID: 29483676
DOI: 10.1038/s10038-018-0426-y

Genes

PREPL

Variants

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