DR. KAVITHA MOHANKUMAR

DR. LEILA MOHAN, DR. SOUMYA NAMBIAR, DR.VAZHIPOKKIL ANJU CHANDRAN

Abstract

2 year old female child ,born of a non-consanguineous marriage, presented with clinical indications of bilateral congenital ptosis with ophthalmoplegia and peripheral hypotonia from 5 months of age.She is suspected to be affected with CHRNE related congenital myasthenia or congenital myopathy and has been evaluated for pathogenic variations.