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

• Published in: Molecular genetics & genomic medicine Vol. 11; no. 6; pp. e2154 - n/a
• Main Authors: Vlckova, Marketa, Prchalova, Darina, Zimmermann, Pavel, Haberlova, Jana, Bendova, Sarka, Moslerova, Veronika, Stranecky, Viktor, Sedlacek, Zdenek, Hancarova, Miroslava
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.06.2023; John Wiley and Sons Inc; Wiley
• Subjects: Age; Apnea; Attention deficit hyperactivity disorder; Autism; Clinical Report; Clinical Reports; Congenital defects; Congenital diseases; congenital myasthenic syndrome type 20; exome sequencing; Genes; Genotype & phenotype; Genotypes; Heterozygosity; Hypotonia; Intellectual disabilities; Myasthenia; Neurodevelopmental disorders; Neuromuscular junctions; Patients; Phenotypes; Signs and symptoms; SLC5A7; Trends; SLC5A7; exome sequencing; neurodevelopmental disorders; congenital myasthenic syndrome type 20

Background Congenital myasthenic syndromes (CMSs) are characterized by hypotonia, episodic apnea, muscle weakness, ptosis and generalized fatigability. CMS type 20 (CMS20) is a rare disorder caused by variants in SLC5A7. In contrast to most other CMSs, CMS20 is also associated with neurodevelopmenta...