Kiran Polavarapu, Balaraju Sunitha, Ana Töpf, Veeramani Preethish-Kumar, Rachel Thompson, Seena Vengalil, Saraswati Nashi, Mainak Bardhan, Sai Bhargava Sanka, Akshata Huddar, Gopikrishnan Unnikrishnan, Gautham Arunachal, Manu Santhappan Girija, Anna Porter, Yoshiteru Azuma, Paulo José Lorenzoni, Dipti Baskar, Ram Murthy Anjanappa, Madassu Keertipriya, Hansashree Padmanabh, Ganaraja Valakunja Harikrishna, Steve Laurie, Leslie Matalonga, Rita Horvath, Atchayaram Nalini, Hanns Lochmüller
Congenital myasthenic syndromes 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 beta2 adrenergic receptor agonists. In this study we identify and genetically characterise the largest cohort of congenital myasthenic syndrome patients from India to date. Clinically suspected patients evaluated in a South Indian hospital between 2014-2019 underwent genetic testing either by standard diagnostic methods of gene panel testing or a two-step method of hotspot screening followed by whole-exome sequencing...
September 18, 2023: Brain