Article
Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.
Journal of clinical neuromuscular disease - 1 Sept 2018
Selvam Pavalan, Arunachal Gautham, Danda Sumita, Chapla Aaron, Sivadasan Ajith, Alexander Mathew, Thomas Maya Mary, Thomas Nihal J
Abstract excerpt
OBJECTIVES: To investigate the mutational spectrum and genotype-phenotype correlation in Indian patients with congenital myasthenic syndrome (CMS), using next-generation sequencing of 5 genes. METHODS: CHRNE, COLQ, DOK7, RAPSN, and GFPT1 were sequenced in 25 affected patients. RESULTS: We found clinically significant variants in 18 patients, of which variants in CHRNE were the most common, and 9 were novel. A...
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