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Congenital myasthenia gravis
2013
Journal of the College of Physicians and Surgeons
Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test, acetylcholine receptor antibody test, trial of steroids and finally neostigmine test which confirmed
pmid:23823963
fatcat:caxxsvnxbzc4dkeqvgiazmzghq