A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.
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DOI: 10.1002/mgg3.2154
Abstract: 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… read more here.
Keywords: slc5a7 variants; cms20; congenital myasthenic; suggests trends ... See more keywords