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Volumn 37, Issue 9, 1987, Pages 1558-1561

McArdle’s disease in two generations: Autosomal recessive transmission with manifesting heterozygote

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN PHOSPHORYLASE;

EID: 0023180605     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/wnl.37.9.1558     Document Type: Article
Times cited : (42)

References (13)
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    • (1986) Myology , vol.2 , pp. 1585-1601
    • DiMauro, S.1    Bresolin, N.2
  • 2
    • 34250502326 scopus 로고
    • McArdle-Syndrom (Myopathie bei fehlender Muskelphosphorylase)
    • Schimrigk K, Mertens HG, Ricker K, et al. McArdle-Syndrom (Myopathie bei fehlender Muskelphosphorylase). Klin Wochenschr 1967;45:1–17.
    • (1967) Klin Wochenschr , vol.45 , pp. 1-17
    • Schimrigk, K.1    Mertens, H.G.2    Ricker, K.3
  • 3
    • 0017090120 scopus 로고
    • Dominant inheritance of McArdle syndrome
    • Chui LA, Munsat TL. Dominant inheritance of McArdle syndrome. ArchNeurol 1976;33:636–641.
    • (1976) ArchNeurol , vol.33 , pp. 636-641
    • Chui, L.A.1    Munsat, T.L.2
  • 4
    • 0018423953 scopus 로고
    • Debrancher deficiency: Neuromuscular disorder in five adults
    • DiMauro S, Hartwig GB, Hays AP, et al. Debrancher deficiency: neuromuscular disorder in five adults. Ann Neurol 1978;5:422–436.
    • (1978) Ann Neurol , vol.5 , pp. 422-436
    • DiMauro, S.1    Hartwig, G.B.2    Hays, A.P.3
  • 5
    • 33746826233 scopus 로고
    • Crystallization and properties of human muscle phosphorylases a and b
    • Yunis AA, Fischer EH, Krebs EG. Crystallization and properties of human muscle phosphorylases a and b. J Biol Chem 1960;235:3263–3268.
    • (1960) J Biol Chem , vol.235 , pp. 3263-3268
    • Yunis, A.A.1    Fischer, E.H.2    Krebs, E.G.3
  • 6
    • 0017868356 scopus 로고
    • McArdle disease: The mystery of reappearing phosphorylase activity in muscle cultures. A fetal isoenzyme
    • DiMauro S, Arnold S, Miranda AF, Rowland LP. McArdle disease: the mystery of reappearing phosphorylase activity in muscle cultures. A fetal isoenzyme. Ann Neurol 1978;3:60–66.
    • (1978) Ann Neurol , vol.3 , pp. 60-66
    • DiMauro, S.1    Arnold, S.2    Miranda, A.F.3    Rowland, L.P.4
  • 7
    • 0014949207 scopus 로고
    • Cleavage of structural proteins during the assembly of the head of bacteriophage T4
    • Laemmli VK. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1970;227:680–685.
    • (1970) Nature , vol.227 , pp. 680-685
    • Laemmli, V.K.1
  • 8
    • 0021857695 scopus 로고
    • Fatal infantile cytochrome c oxidase deficiency: Decrease of immunologically detectable enzyme in muscle
    • Bresolin N, Zeviani M, Bonilla E, et al. Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle. Neurology 1985;35:802–812.
    • (1985) Neurology , vol.35 , pp. 802-812
    • Bresolin, N.1    Zeviani, M.2    Bonilla, E.3
  • 12
    • 0021240538 scopus 로고
    • High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle’s syndrome to chromosome 11
    • Lebo RV, Gorin F, Fletterick RJ, et al. High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle’s syndrome to chromosome 11. Science 1984;225:57–59.
    • (1984) Science , vol.225 , pp. 57-59
    • Lebo, R.V.1    Gorin, F.2    Fletterick, R.J.3
  • 13
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    • Restriction enzyme analysis of McArdle’s syndrome gene locus. Abstract
    • Anderson L, Fletterick RJ, DiMauro S, et al. Restriction enzyme analysis of McArdle’s syndrome gene locus. Abstract. Muscle and Nerve 1986;9:232.
    • (1986) Muscle and Nerve , vol.9 , pp. 232
    • Anderson, L.1    Fletterick, R.J.2    DiMauro, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.