Publications by authors named "C Magnouche"
Rev Neurol (Paris)
June 2023
Article Synopsis
- Congenital myasthenic syndromes (CMS) are rare genetic disorders linked to the COLQ gene, which affects synapses.
- The study investigates the clinical characteristics of three families with COLQ gene mutations, highlighting one novel mutation.
- Results emphasize the need to recognize specific phenotypic features of COLQ mutations to enhance genetic testing and understanding of the condition.
