Associated Papers
Clinical Manifestations and Genetic Insights Into Congenital Myasthenic Syndrome-22 in Pediatric Patients.
Wang T et al.
Pediatric Neurology, 2026
Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders.
Tan CA et al.
Genetic Testing and Molecular Biomarkers, 2020
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
The second point mutation in PREPL: a case report and literature review.
Silva S et al.
Journal of Human Genetics, 2018
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