Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.

ABSTRACT: Congenital myasthenic syndromes (CMS) are a rare group of inherited disorders caused by gene defects associated with the neuromuscular junction and potentially treatable with commonly available medications such as acetylcholinesterase inhibitors and β2 adrenergic receptor agonists. In this study, we identified and genetically characterized the largest cohort of CMS patients from India to date. Genetic testing of clinically suspected patients evaluated in a South Indian hospital during the period 2014-19 was carried out by standard diagnostic gene panel testing or using a two-step method that included hotspot screening followed by whole-exome sequencing. In total, 156 genetically diagnosed patients (141 families) were characterized and the mutational spectrum and genotype-phenotype correlat

SUBMITTER: Polavarapu K 

PROVIDER: S-EPMC10766255 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature