Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report.

Abstract excerpt

BACKGROUND: Congenital myasthenic syndromes caused by mutations in the COL13A1 gene are very rare and have a phenotype described as severe. We present the first case of congenital myasthenic syndrome described in Algeria and the Maghreb with a new mutation of this gene. CASE PRESENTATION: We present an 8-year-old Algerian female patient, who presented with a moderate phenotype with bilateral ptosis that...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to Mutation
• Share to Myasthenic Syndromes, Congenital