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
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.
Rodríguez Cruz PM et al.
Neuromuscular Disorders : Nmd, 2021
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