Article

Congenital myasthenic syndrome due to compound heterozygous mutations in the GFPT1 gene

2020-09-04

Abstract excerpt

<title>Abstract</title> <p>Congenital myasthenic syndrome (CMS) is a heterogeneous group of hereditary neuromuscular disorders associated with neuromuscular junction (NMJ) dysfunction. Here, we report the genetic variants and clinical follow-up of one individual suffering from CMS. The proband presented with limb weakness, and symptoms worsened after limb activities. In addition, decreases in muscle action potent...

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Literature Corpus work: dc168c72-a109-5072-b068-0f213c4a6cbf
DOI: 10.21203/rs.3.rs-53292/v2

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