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Article

Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2021

Polavarapu Kiran, Vengalil Seena, Preethish-Kumar Veeramani, Arunachal Gautham, Nashi Saraswati, Mohan Dhaarini, Chawla Tanushree, Bardhan Mainak, Nandeesh Bevinahalli, Gupta Priya, Gowda Vykuntaraju K, Lochmüller Hanns, Nalini Atchayaram

Abstract excerpt

Three unrelated girls, all born to consanguineous parents had respiratory distress, severe hypotonia at birth along with prominent fatigable muscle weakness and characteristic myopathic facies. In addition, patient 1 had fatigable ptosis, ophthalmoparesis and profound bulbar weakness and required nasogastric feeding from birth. A feeding gastrostomy was inserted at 9 months of age. She continued to have severe...

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PMID: 33631708
DOI: 10.1016/j.ejpn.2021.02.005

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