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

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...

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Detalles Bibliográficos
Autores principales: Kediha, Mohamed Islam, Tazir, Meriem, Sternberg, Damien, Eymard, Bruno, Alipacha, Lamia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8957144/
https://www.ncbi.nlm.nih.gov/pubmed/35337379
http://dx.doi.org/10.1186/s13256-022-03268-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8957144/
https://www.ncbi.nlm.nih.gov/pubmed/35337379
http://dx.doi.org/10.1186/s13256-022-03268-z

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