Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes—a comprehensive review

HIGHLIGHTS

  • who: Kinji Ohno and colleagues from the Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan have published the article: Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genesu2014A Comprehensive Review, in the Journal: (JOURNAL)
  • what: CMS is a group of heterogenous disorders with highly variable clinical phenotypes that require specific treatment for specific pathomechanisms (Table 1).

SUMMARY

    SomeSLC5A7-CMS, patients with SNAP25-CMS, UNC13A-CMS, DPAGT1-CMS, ALG2-CMS,UNC13A-CMS, MYO9A-CMS, DPAGT1-CMS, SLC25A1-CMS, CHAT-CMS . . .

     

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