Associated Papers
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.
Vlckova M et al.
Molecular Genetics & Genomic Medicine, 2023
36840359 (PubMed )
Supplement: MGG3-11-e2154-s002.xlsx › 1
Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome.
Rizvi M et al.
Human Molecular Genetics, 2023
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease.
Cannizzaro M et al.
Journal of Applied Genetics, 2019
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Wang H et al.
Brain : a Journal of Neurology, 2017
Select a paper to view details