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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Xehetasun bibliografikoak
Egile Nagusiak: Aisha M. AlShamsi, Qudsia R. Shaukat, Mohammed H. AlKuwaiti
Formatua: Artikulua
Hizkuntza:English
Argitaratua: Discover STM Publishing Ltd 2021-06-01
Saila:Journal of Biochemical and Clinical Genetics
Gaiak:
congenital myasthenic syndrome type 23
slc25a1 gene
whole-exome sequencing
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