scispace - formally typeset
Search or ask a question

Showing papers by "Zdenek Sedlacek published in 2023"

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

[...]

Marketa Vlckova, Darina Prchalova, Pavel Zimmermann, Jana Haberlová, Šárka Bendová, Veronika Moslerová, Viktor Stránecký, Zdenek Sedlacek, Miroslava Hancarova 
24 Feb 2023-Molecular Genetics & Genomic Medicine
TL;DR: In this article, a rare variant of Congenital myasthenic syndromes (CMSs) is associated with neurodevelopmental disorders (NDDs) and only 19 patients from 14 families have been reported so far.
Abstract: 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 neurodevelopmental disorders (NDDs). Only 19 patients from 14 families have been reported so far.

1 citations