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Volumn 22, Issue 4, 2000, Pages 262-264

Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family

Author keywords

Central core disease; Congenital neuromuscular disease with uniform type 1 fibers; Ryanodine receptor gene

Indexed keywords

RYANODINE RECEPTOR;

EID: 0034213026     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(00)00108-X     Document Type: Article
Times cited : (21)

References (10)
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  • 3
    • 0020693550 scopus 로고
    • Non-progressive congenital neuromuscular disease with uniform type 1 fiber
    • Oh S.J., Danon M.J. Non-progressive congenital neuromuscular disease with uniform type 1 fiber. Arch Neurol. 40:1983;147-150.
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    • Oh, S.J.1    Danon, M.J.2
  • 4
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    • A case of congenital neuromuscular disease with uniform type 1 fibers, abnormal mitochondrial network and jagged Z-line
    • Pellegrini G., Barbieri S., Moggio M., Cheldi A., Scarlato G. A case of congenital neuromuscular disease with uniform type 1 fibers, abnormal mitochondrial network and jagged Z-line. Neuropediatrics. 16:1985;162-166.
    • (1985) Neuropediatrics , vol.16 , pp. 162-166
    • Pellegrini, G.1    Barbieri, S.2    Moggio, M.3    Cheldi, A.4    Scarlato, G.5
  • 5
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    • Congenital neuromuscular disease with uniform type 1 fibers: A case report (in Japanese)
    • Araki A., Kurokawa T., Sakuragawa N., Nonaka I. Congenital neuromuscular disease with uniform type 1 fibers: a case report (in Japanese). No To Hattatsu (Tokyo). 23:1991;295-298.
    • (1991) No to Hattatsu (Tokyo) , vol.23 , pp. 295-298
    • Araki, A.1    Kurokawa, T.2    Sakuragawa, N.3    Nonaka, I.4
  • 6
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    • A mutation in the human ryanodine receptor gene associated with central core disease
    • Zhang Y., Chen H.S., Khanna V.K., Leon S.D., Phillips M.S., Schappert K., et al. A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet. 5:1993;46-50.
    • (1993) Nat Genet , vol.5 , pp. 46-50
    • Zhang, Y.1    Chen, H.S.2    Khanna, V.K.3    Leon, S.D.4    Phillips, M.S.5    Schappert, K.6
  • 7
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    • Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
    • Quane K.A., Healy J.M.S., Keating K.E., Mannig B.M., Couch F.J., Palmucci L.M., et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet. 5:1993;51-55.
    • (1993) Nat Genet , vol.5 , pp. 51-55
    • Quane, K.A.1    Healy, J.M.S.2    Keating, K.E.3    Mannig, B.M.4    Couch, F.J.5    Palmucci, L.M.6
  • 8
    • 0015901063 scopus 로고
    • Central core disease or not?: Observations on a family with a non-progressive myopathy
    • Morgan-Hughes J.A., Brett E.M., Lake B.D., Tomé F.M.S. Central core disease or not?: observations on a family with a non-progressive myopathy. Brain. 96:1973;527-536.
    • (1973) Brain , vol.96 , pp. 527-536
    • Morgan-Hughes, J.A.1    Brett, E.M.2    Lake, B.D.3    Tomé, F.M.S.4
  • 10
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    • Familial non-progressive myopathy with muscle cramps after exercise: A new disease associated with cores in the muscle fibers
    • Bethlem J., Van Gool J., Hülsmann W.C., Meijer A.E.F.H. Familial non-progressive myopathy with muscle cramps after exercise: a new disease associated with cores in the muscle fibers. Brain. 89:1966;569-588.
    • (1966) Brain , vol.89 , pp. 569-588
    • Bethlem, J.1    Van Gool, J.2    Hülsmann, W.C.3    Meijer, A.E.F.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.