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Volumn 98, Issue 5, 1998, Pages 364-367

Myophosphorylase deficiency and limb-girdle muscular dystrophy in the same pedigree

Author keywords

Limb girdle muscular dystrophy; McArdle's disease; Myophosphorylase deficiency; Semi ischemic exercise test

Indexed keywords

ADENOSINE TRIPHOSPHATE; CREATINE KINASE; DNA; DYSTROPHIN; FRUCTOSE BISPHOSPHATE ALDOLASE; GLYCOGEN PHOSPHORYLASE; LACTIC ACID; PHOSPHORYLASE;

EID: 0031767935     PISSN: 00016314     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0404.1998.tb01749.x     Document Type: Article
Times cited : (2)

References (13)
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  • 2
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  • 3
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    • Tsujino, S.1    Shanske, S.2    Dimauro, S.3
  • 4
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    • Metabolic basis of improved exercise tolerance: Muscle phosphorylase deficiency after glucagon administration
    • Cleveland
    • KONO N, MINEO I, SUMI S et al. Metabolic basis of improved exercise tolerance: Muscle phosphorylase deficiency after glucagon administration. Neurology (Cleveland) 1984: 34: 1471-6.
    • (1984) Neurology , vol.34 , pp. 1471-1476
    • Kono, N.1    Mineo, I.2    Sumi, S.3
  • 5
    • 0018423953 scopus 로고
    • Debrancher enzyme; neuromuscular disorder of 5 adults
    • DIMAURO S, HARTWING GB, HAYS AP et al. Debrancher enzyme; neuromuscular disorder of 5 adults. Ann Neurol 1979: 5: 422-36.
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    • Dimauro, S.1    Hartwing, G.B.2    Hays, A.P.3
  • 6
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    • Late onset type of skeletal muscle phosphorylase deficiency: A new familial variant with completely and partially affected subjects
    • ENGEL WK, EYERMAN EL, WILLIAMS HE. Late onset type of skeletal muscle phosphorylase deficiency: a new familial variant with completely and partially affected subjects. N Engl J Med 1963: 268: 135-7.
    • (1963) N Engl J Med , vol.268 , pp. 135-137
    • Engel, W.K.1    Eyerman, E.L.2    Williams, H.E.3
  • 9
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    • McArdle's disease presenting as convulsion and rhabdomyolysis
    • SALMON SE, TURNER CE. McArdle's disease presenting as convulsion and rhabdomyolysis. Am J Med 1965: 39: 142-6.
    • (1965) Am J Med , vol.39 , pp. 142-146
    • Salmon, S.E.1    Turner, C.E.2
  • 11
    • 0029054266 scopus 로고
    • The molecular genetic basis of myophosphorylase deficiency (McArdle's disease)
    • TSUJINO S, SHANSKE S, NONAKA I, DIMAURO S. The molecular genetic basis of myophosphorylase deficiency (McArdle's disease). Muscle Nerve Suppl 1995: 3: S23-7.
    • (1995) Muscle Nerve Suppl , vol.3
    • Tsujino, S.1    Shanske, S.2    Nonaka, I.3    Dimauro, S.4
  • 12
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    • A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage
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    • Beckman, J.S.1    Richard, I.2    Hillaire, D.3
  • 13
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    • Severe childhood autosomal recessive muscular dystrophy with deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12
    • AZIBI K, BACHNER L, BECKMAN JS et al. Severe childhood autosomal recessive muscular dystrophy with deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. Hum Molec Genet 1993: 2: 1423-8.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.