Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report.
Mohamed Islam KedihaMeriem TazirDamien SternbergBruno EymardLamia AlipachaPublished in: Journal of medical case reports (2022)
We report a case with a mutation of the Col13A1 gene, reported in the Maghreb (North Africa), and whose phenotype is moderate compared with the majority of cases found in the literature.