ArticleJournal of medical case reports2022
Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report.
Article in Journal of medical case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 5 citations in OpenAlex.
- Expression of Collagen XIII in Tissues of the Thyroid and Orbit With Relevance to Thyroid-Associated Ophthalmopathy.Investigative ophthalmology & visual science · 2024Article
- Contribution of collagen XIII to lung function and development of pulmonary fibrosis.BMJ open respiratory research · 2023Article
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.International journal of molecular sciences · 2023Review
- Analysis and comparisons of gene expression changes in patient- derived neurons from ROHHAD, CCHS, and PWS.Frontiers in pediatrics · 2023Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital 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 fluctuates during the day and has occurred since birth. During the investigation, and despite the very probable congenital origin, we ruled out other diagnoses that could induce pathology of the neuromuscular junction. The genetic study confirmed our diagnosis suspicion by highlighting a new mutation in the COL13A1 gene.
conclusionWe 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.
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