Congenital Myasthenic Syndrome: case study from a tertiary care institute of Western India

Objective. To describe clinical characteristics, genetic details and management of patients of congenital myasthenic syndrome. Methods. A retrospective study was carried out from 2020 to 2023. Patient who presented with ptosis, ophthalmoplegia, proximal limb weakness with genetically confirmed mutat...

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Autors principals:	Parag R. Maheshkar, Koustubh Bavdhankar, Neeraj Jain, Rishikesh Joshi, Santosh Sriram Andugulapati
Format:	Artigo
Idioma:	Inglês
Publicat:	Amaltea Medical Publishing House 2023-12-01
Col·lecció:	Romanian Journal of Neurology
Matèries:	myasthenia acetylcholine receptor antibody congenital myasthenic syndrome muscle specific kinase
Accés en línia:	https://rjn.com.ro/articles/2023.4/RJN_2023_4_Art-01.pdf
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