Associated Papers
Application of whole exome sequencing in carrier screening for high-risk families without probands.
Huang Q et al.
Frontiers in Genetics, 2024
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.
Pugliese A et al.
Journal of Neuromuscular Diseases, 2023
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
[Congenital myasthenic syndrome related to SLC25A1 gene variant: two cases report and literature review].
Li WH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.
Li W et al.
Bmc Neurology, 2020
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