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Results 1 - 10 of 13 for Congenital myasthenic syndrome 15
  1. COLQ gene 
    ... Lochmuller H. Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes. Eur J Paediatr Neurol. 2011 May;15(3):189-96. doi: 10.1016/j.ejpn. ...
    https://medlineplus.gov/genetics/gene/colq - Genetics
  2. Congenital myasthenic syndrome 
    ... Lochmuller H. Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes. Eur J Paediatr Neurol. 2011 May;15(3):189-96. doi: 10.1016/j.ejpn. ...
    https://medlineplus.gov/.../condition/congenital-myasthenic-syndrome - Genetics
  3. RAPSN gene 
    ... Lochmuller H. Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes. Eur J Paediatr Neurol. 2011 May;15(3):189-96. doi: 10.1016/j.ejpn. ...
    https://medlineplus.gov/genetics/gene/rapsn - Genetics
  4. CHAT gene 
    ... Lochmuller H. Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes. Eur J Paediatr Neurol. 2011 May;15(3):189-96. doi: 10.1016/j.ejpn. ...
    https://medlineplus.gov/genetics/gene/chat - Genetics
  5. DOK7 gene 
    ... Mallebrera C, Sewry C, Muntoni F, Robb SA. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/dok7 - Genetics
  6. CHRNE gene 
    ... Mallebrera C, Sewry C, Muntoni F, Robb SA. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/chrne - Genetics
  7. Neuromuscular Disorders (National Library of Medicine)  
    Neuromuscular disorders affect your neuromuscular system. They can cause problems with: The nerves that control your muscles Your muscles Communication between your ...
    https://medlineplus.gov/neuromusculardisorders.html - Health Topics
  8. SCN4A gene 
    ... This Health Condition MedlinePlus Genetics provides information about Congenital myasthenic syndrome More About This Health Condition Na(V)1. ... j.nmd.2021.03.014. Epub 2021 Apr 15. Citation on PubMed ... SC, Engel AG. Myasthenic syndrome caused by mutation of the SCN4A sodium channel. ...
    https://medlineplus.gov/genetics/gene/scn4a - Genetics
  9. Myasthenia gravis 
    ... which is not an autoimmune disorder, is called congenital myasthenic syndrome. In most cases, myasthenia gravis is not inherited ...
    https://medlineplus.gov/genetics/condition/myasthenia-gravis - Genetics
  10. PLEC gene 
    ... This Health Condition MedlinePlus Genetics provides information about Congenital myasthenic syndrome More About This Health Condition At least one ...
    https://medlineplus.gov/genetics/gene/plec - Genetics
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