Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23

Clin Genet. 2020 Apr;97(4):666-667. doi: 10.1111/cge.13678. Epub 2019 Dec 6.

Authors

Amna Al-Futaisi¹, Faraz Ahmad¹, Ghalia Al-Kasbi², Khalid Al-Thihli^{2

3}, Roshan Koul¹, Almundher Al-Maawali^{2

3}

Affiliations

¹ Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
² Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
³ Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.

PMID: 31808147
DOI: 10.1111/cge.13678

No abstract available

Publication types

Letter

MeSH terms

Age of Onset
Female
Genetic Association Studies
Genetic Predisposition to Disease*
Humans
Infant
Infant, Newborn
Male
Mitochondrial Proteins / genetics*
Mutation, Missense / genetics
Myasthenic Syndromes, Congenital / genetics*
Myasthenic Syndromes, Congenital / pathology
Organic Anion Transporters / genetics*
Pedigree

Substances

Mitochondrial Proteins
Organic Anion Transporters
Slc25a1 protein, human