Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family

Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family

Background: Congenital myasthenic syndromes (CMSs) are a clinically and genetically heterogeneous group of disorders caused by mutations that lead to altered neuromuscular junction transmissions. Recently, the solute carrier family 25 member 1 (SLC25A1) gene was described to cause CMS type 23. This...

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Détails bibliographiques
Auteurs principaux: Aisha M. AlShamsi, Qudsia R. Shaukat, Mohammed H. AlKuwaiti
Format: Article
Langue:English
Publié: Discover STM Publishing Ltd 2021-06-01
Collection:Journal of Biochemical and Clinical Genetics
Sujets:
congenital myasthenic syndrome type 23
slc25a1 gene
whole-exome sequencing
Accès en ligne:http://www.ejmanager.com/fulltextpdf.php?mno=14807

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