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Results 1 - 7 of 7 for Congenital myasthenic syndrome 17
  1. 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.2011.03.006. Epub 2011 Apr 17. Citation on PubMed Engel AG, Shen XM, Selcen ...
    https://medlineplus.gov/genetics/gene/chat - Genetics
  2. 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.2011.03.006. Epub 2011 Apr 17. Citation on PubMed Engel AG, Shen XM, Selcen ...
    https://medlineplus.gov/genetics/gene/colq - Genetics
  3. 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.2011.03.006. Epub 2011 Apr 17. Citation on PubMed Beeson D, Webster R, Cossins ...
    https://medlineplus.gov/.../condition/congenital-myasthenic-syndrome - Genetics
  4. 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.2011.03.006. Epub 2011 Apr 17. Citation on PubMed Beeson D, Webster R, Cossins ...
    https://medlineplus.gov/genetics/gene/rapsn - Genetics
  5. DOK7 gene 
    ... Lochmuller H. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain. 2007 Jun;130(Pt 6):1497-506. doi: 10.1093/brain/awm068. Epub 2007 Apr 17. Citation on PubMed Selcen D, Milone M, Shen ...
    https://medlineplus.gov/genetics/gene/dok7 - Genetics
  6. 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
  7. SCN4A gene 
    ... This Health Condition MedlinePlus Genetics provides information about Congenital myasthenic syndrome More About This Health Condition Na(V)1. ...
    https://medlineplus.gov/genetics/gene/scn4a - Genetics