PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.

ABSTRACT:

Objective

To investigate the genetic and physiologic basis of the neuromuscular symptoms of hypotonia-cystinuria syndrome (HCS) and isolated PREPL deficiency, and their response to therapy.

Methods

We performed molecular genetic, histochemical, immunoblot, and ultrastructural studies, investigated neuromuscular transmission in vitro in a patient with isolated PREPL deficiency, and evaluated the effect of pyridostigmine in this patient and in 3 patients with the HCS.

Results

HCS is caused by recessive deletions involving the SLC3A1 and PREPL genes. The major clinical features of HCS are type A cystinuria, growth hormone deficiency, muscle weakness, ptosis, and feeding problems. The proband with isolated PREPL deficiency had myasthenic symptoms since birth and a positiv

SUBMITTER: Regal L 

PROVIDER: S-EPMC4001208 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature