A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype –phenotype correlation

ConclusionOur patient confirms that CMS20 can be associated with NDDs. The study illustrates the strength of ES in deciphering the genetic basis of rare diseases, contributes to characterization of CMS20 and suggests trends in genotype –phenotype correlation in CMS20.

Source: Molecular Genetics & Genomic Medicine - February 25, 2023 Category: Genetics & Stem Cells Authors: Marketa Vlckova, Darina Prchalova, Pavel Zimmermann, Jana Haberlova, Sarka Bendova, Veronika Moslerova, Viktor Stranecky, Zdenek Sedlacek, Miroslava Hancarova Tags: CLINICAL REPORT Source Type: research