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Myogenetics Laboratory

As seen in: Journal of Medical Case Reports
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Articles

Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report - Journal of Medical Case Reports

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By Mohamed Islam, Benyoucef Benkhedda, Myogenetics Laboratory
| Journal of Medical Case Reports Verified
Case report Open Access Published: 26 March 2022 Journal of Medical Case Reports volume 16, Article number: 134 (2022) Cite this article Abstract 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.
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