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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 Alipacha
Published 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.
Keyphrases
  • copy number
  • genome wide
  • high intensity
  • systematic review
  • genome wide identification
  • dna methylation
  • case report
  • gene expression
  • transcription factor