메뉴 건너뛰기




Volumn 61, Issue 2 A, 2003, Pages 262-264

Myotonia congenita and myoadenylate deaminase deficiency: Case report

Author keywords

Muscle biopsy; Myoadenilate deaminase; Myotonia congenita

Indexed keywords

ADENOSINE MONOPHOSPHATE DEAMINASE;

EID: 0038022783     PISSN: 0004282X     EISSN: None     Source Type: Journal    
DOI: 10.1590/S0004-282X2003000200019     Document Type: Article
Times cited : (2)

References (14)
  • 1
    • 0028834213 scopus 로고
    • Muscle AMP deaminase deficiency in 2% of a healthy population
    • Norman B, Glenmark B, Jansson E. Muscle AMP deaminase deficiency in 2% of a healthy population. Muscle Nerve 1995;18:239-241.
    • (1995) Muscle Nerve , vol.18 , pp. 239-241
    • Norman, B.1    Glenmark, B.2    Jansson, E.3
  • 2
    • 0018200117 scopus 로고
    • Myoadenilate deaminase deficiency: A new disease of muscle
    • Fishbein WN, Armbrustmacher VW, Griffin JL. Myoadenilate deaminase deficiency: a new disease of muscle. Science 1978;200:545-548.
    • (1978) Science , vol.200 , pp. 545-548
    • Fishbein, W.N.1    Armbrustmacher, V.W.2    Griffin, J.L.3
  • 3
    • 0023395339 scopus 로고
    • Myoadenylate deaminase deficiency: Absence of correlation with exercise intolerance in 452 muscle biopsies
    • Mercelis R, Martin JJ, de Barsy T, Van den Berghe G. Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies. J Neurol 1987;234:385-389.
    • (1987) J Neurol , vol.234 , pp. 385-389
    • Mercelis, R.1    Martin, J.J.2    De Barsy, T.3    Van den Berghe, G.4
  • 5
    • 0030969651 scopus 로고    scopus 로고
    • Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency
    • Gross M. Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency. J Inher Metab Dis 1997;20:186-192.
    • (1997) J Inher Metab Dis , vol.20 , pp. 186-192
    • Gross, M.1
  • 8
    • 0019524236 scopus 로고
    • Muscle adenylate deaminase deficiency. Report of six new cases
    • Kar NC, Pearson CM. Muscle adenylate deaminase deficiency. Report of six new cases. Arch Neurol 1981;38:279-281.
    • (1981) Arch Neurol , vol.38 , pp. 279-281
    • Kar, N.C.1    Pearson, C.M.2
  • 9
    • 0031906409 scopus 로고    scopus 로고
    • Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria
    • Bruno C, Minetti C, Shanske S, et al. Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. Neurology 1998;50:296-298.
    • (1998) Neurology , vol.50 , pp. 296-298
    • Bruno, C.1    Minetti, C.2    Shanske, S.3
  • 10
    • 0027511236 scopus 로고
    • Genetics and physiology of the myotonic muscle disorders
    • Ptacek LJ, Johnson KJ, Griggs RC. Genetics and physiology of the myotonic muscle disorders. N Engl J Med 1993;328:482-489.
    • (1993) N Engl J Med , vol.328 , pp. 482-489
    • Ptacek, L.J.1    Johnson, K.J.2    Griggs, R.C.3
  • 11
    • 0029830509 scopus 로고    scopus 로고
    • Myotonia and the muscle chloride channel: Dominant mutations show variable penetrance and founder effect
    • Koty PP, Pegoraro E, Hobson G, et al. Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect. Neurology 1996;47:963-968.
    • (1996) Neurology , vol.47 , pp. 963-968
    • Koty, P.P.1    Pegoraro, E.2    Hobson, G.3
  • 12
    • 0036759083 scopus 로고    scopus 로고
    • The myotonia congenita mutation A331T confers a novel hyperpolarization-activated gate to the muscle chloride channel CIC-1
    • Warnstedt M, Sun C, Poser B, et al. The myotonia congenita mutation A331T confers a novel hyperpolarization-activated gate to the muscle chloride channel CIC-1. J Neurosci 2002;22:7462-7470.
    • (2002) J Neurosci , vol.22 , pp. 7462-7470
    • Warnstedt, M.1    Sun, C.2    Poser, B.3
  • 13
    • 0036314121 scopus 로고    scopus 로고
    • A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population
    • Gross M, Rotzer E, Kolle P, et al. A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population. Neuromuscul Disord 2002;12:558-565.
    • (2002) Neuromuscul Disord , vol.12 , pp. 558-565
    • Gross, M.1    Rotzer, E.2    Kolle, P.3
  • 14
    • 0035849529 scopus 로고    scopus 로고
    • MeCP2 mutations in children with and without the phenotype of Rett syndrome
    • Hoffbuhr K, Devaney JM, LaFleur B, et al. MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 2001;56:1486-1495.
    • (2001) Neurology , vol.56 , pp. 1486-1495
    • Hoffbuhr, K.1    Devaney, J.M.2    LaFleur, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.