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Developmental Medicine and Child Neurology
Volumn 52, Issue 10, 2010, Pages
Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations
Author keywords

[No Author keywords available]
Indexed keywords

EPHEDRINE; PYRIDOSTIGMINE;
EID: 77956469323     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2010.03663.x     Document Type: Letter
Times cited : (13)
References (8)
  • 1
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    • Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission
    • Muller JS, Mihaylova V, Abicht A, Lochmuller H. Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission. Expert Rev Mo Med 2007, 9:1-20.
    • (2007) Expert Rev Mo Med , vol.9 , pp. 1-20
    • Muller, J.S.1    Mihaylova, V.2    Abicht, A.3    Lochmuller, H.4
  • 2
    • 45249107304 scopus 로고    scopus 로고
    • Further observation in congenital myasthenic syndromes
    • Engel AG, Shen XM, Selcen D, Sine SM. Further observation in congenital myasthenic syndromes. Ann N Y Acad Sci 2008, 1132:104-13.
    • (2008) Ann N Y Acad Sci , vol.1132 , pp. 104-113
    • Engel, A.G.1    Shen, X.M.2    Selcen, D.3    Sine, S.M.4
  • 3
    • 62149126975 scopus 로고    scopus 로고
    • Mutations in LAMB2 causing a severe form of synaptic congenital myasthenia syndrome
    • Maselli RA, Ng JJ, Anderson JA. Mutations in LAMB2 causing a severe form of synaptic congenital myasthenia syndrome. J Med Genet 2009, 46:203-8.
    • (2009) J Med Genet , vol.46 , pp. 203-208
    • Maselli, R.A.1    Ng, J.J.2    Anderson, J.A.3
  • 4
    • 0032483003 scopus 로고    scopus 로고
    • Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetrical enzyme
    • Ohno K, Brengman JM, Tsujino A, Engel AG. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetrical enzyme. Proc Natl Acad Sci USA 1998, 95:9654-9.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 9654-9659
    • Ohno, K.1    Brengman, J.M.2    Tsujino, A.3    Engel, A.G.4
  • 5
    • 0032231665 scopus 로고    scopus 로고
    • Mutation in the human acetylcholinesterase-associated gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency
    • Donger C, Krejci E, Serradell P. Mutation in the human acetylcholinesterase-associated gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency. Am J Hum Genet 1998, 63:967-75.
    • (1998) Am J Hum Genet , vol.63 , pp. 967-975
    • Donger, C.1    Krejci, E.2    Serradell, P.3
  • 7
    • 39749165133 scopus 로고    scopus 로고
    • Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes
    • Mihaylova V, Muller JS, Vilchez JJ. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain 2008, 131:747-59.
    • (2008) Brain , vol.131 , pp. 747-759
    • Mihaylova, V.1    Muller, J.S.2    Vilchez, J.J.3
  • 8
    • 0037176796 scopus 로고    scopus 로고
    • Three novel COLQ mutations and variation of phenotypic expressivity due to G240X
    • Shapira YA, Sadeh ME, Bergtraum MP. Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. Neurology 2002, 58:603-9.
    • (2002) Neurology , vol.58 , pp. 603-609
    • Shapira, Y.A.1    Sadeh, M.E.2    Bergtraum, M.P.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.