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

doi:10.1093/brain/awad315

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Article

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

Brain : a journal of neurology - 4 Jan 2024

Polavarapu Kiran, Sunitha Balaraju, Töpf Ana, Preethish-Kumar Veeramani, Thompson Rachel, Vengalil Seena, Nashi Saraswati, Bardhan Mainak, Sanka Sai Bhargava, Huddar Akshata, Unnikrishnan Gopikrishnan, Arunachal Gautham, Girija Manu Santhappan, Porter Anna, Azuma Yoshiteru, Lorenzoni Paulo José, Baskar Dipti, Anjanappa Ram Murthy, Keertipriya Madassu, Padmanabh Hansashree, Harikrishna Ganaraja Valakunja, Laurie Steve, Matalonga Leslie, Horvath Rita, Nalini Atchayaram, Lochmüller Hanns

Abstract excerpt

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...

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PMID: 37721175
DOI: 10.1093/brain/awad315
PMCID: PMC10766255

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