Article
First characterization of congenital myasthenic syndrome type 5 in North Africa.
Molecular biology reports - 1 Oct 2021
Khaoula Rochdi, Cerino Mathieu, Da Silva Nathalie, Delague Valerie, Nahili Halima, Kriouile Yamna, Gorokhova Svetlana, Bartoli Marc, Saïle Rachid, Barakat Abdelhamid, Krahn Martin
Abstract excerpt
BACKGROUND: Congenital myasthenic syndromes (CMS) are associated with defects in the structure and the function of neuromuscular junctions. These rare disorders can result from mutations in the collagenic tail of endplate acetylcholinesterase (COLQ) essentially associated with autosomal recessive inheritance. With the lowered cost of genetic testing and increased access to next-generation sequencing, many...
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