Associated Papers
Clinical Manifestations and Genetic Insights Into Congenital Myasthenic Syndrome-22 in Pediatric Patients.
Wang T et al.
Pediatric Neurology, 2026
First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant.
Zhang P et al.
Molecular Genetics & Genomic Medicine, 2020
PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.
Régal L et al.
Neurology, 2014
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