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Volumn 55, Issue 11, 2000, Pages 1689-1696

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; RYANODINE RECEPTOR; THREONINE;

EID: 0034642231     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.55.11.1689     Document Type: Article
Times cited : (131)

References (35)
  • 2
    • 0033616718 scopus 로고    scopus 로고
    • A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 4164-4169
    • Lynch, P.J.1    Tong, J.2    Lehane, M.3
  • 16
    • 0001698695 scopus 로고
    • Rapid examination of muscle tissue: An improved trichrome method forrapid diagnosis of muscle biopsy fresh-frozen sections
    • (1963) Neurology , vol.13 , pp. 919-923
    • Engel, W.K.1    Cunningham, G.G.2
  • 24
    • 0001030415 scopus 로고
    • Congenital myopathies
    • Franzini-Armstrong C, ed. Myology. New York, NY: McGraw-Hill
    • (1994) , pp. 1486-1494
    • Fardeau, M.1    Tome, F.M.S.2
  • 34
    • 0025071723 scopus 로고
    • Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum
    • (1990) J Biol Chem , vol.265 , pp. 2244-2256
    • Zorzato, F.1    Fujii, J.2    Otsu, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.