Article

First Characterization of Congenital Myasthenic Syndrome Type 5 in North Africa

2021-04-13

Abstract excerpt

<title>Abstract</title> <p>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 (<italic>COLQ</italic>) essentially associated with autosomal recessive inheritance.With the lowered cost of genetic testing and increased access to next-gene...

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Literature Corpus work: 9af17b35-ef0c-533b-bcc3-6bd16d31cda6
DOI: 10.21203/rs.3.rs-356370/v1

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