메뉴 건너뛰기




Volumn 25, Issue 4, 2006, Pages 180-184

Adult central core disease. Clinical, histologic and genetic aspects: Case report and review of the literature

Author keywords

Central core disease; Malignant hyperthermia; Ryanodine receptor; Type I myofibers

Indexed keywords

ADENOSINE TRIPHOSPHATASE; AMLODIPINE BESYLATE; CALCIUM CHANNEL BLOCKING AGENT; CYCLOOXYGENASE 2 INHIBITOR; CYTOCHROME C OXIDASE; MELOXICAM; OXIDOREDUCTASE; SUCCINATE DEHYDROGENASE;

EID: 33745907529     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (8)

References (15)
  • 1
    • 0015040599 scopus 로고
    • Central core disease with congenital hip dislocation: Study of two families
    • Armstrong RM, Koenigsberger R, Mellinger J, Lovelace RE. Central core disease with congenital hip dislocation: study of two families. Neurology. 1971; 21: 369-376.
    • (1971) Neurology , vol.21 , pp. 369-376
    • Armstrong, R.M.1    Koenigsberger, R.2    Mellinger, J.3    Lovelace, R.E.4
  • 2
    • 0020043503 scopus 로고
    • Central core disease: Study of a family with five affected generations
    • Byrne E, Blumbergs PC, Hallpike JF. Central core disease: study of a family with five affected generations. J Neurol Sci. 1982; 55: 77-83.
    • (1982) J Neurol Sci , vol.55 , pp. 77-83
    • Byrne, E.1    Blumbergs, P.C.2    Hallpike, J.F.3
  • 3
    • 0000502970 scopus 로고
    • Central core disease: An investigation of a rare muscle cell abnormality
    • Engel WK, Foster JB, Hughes BP, Huxley HE, Mahler R. Central core disease: an investigation of a rare muscle cell abnormality. Brain. 1961; 84: 167-185.
    • (1961) Brain , vol.84 , pp. 167-185
    • Engel, W.K.1    Foster, J.B.2    Hughes, B.P.3    Huxley, H.E.4    Mahler, R.5
  • 4
    • 0001714602 scopus 로고
    • The prognostic value of the muscle biopsy in the floppy infant
    • Greenfield JG, Cornman T, Shy GM. The prognostic value of the muscle biopsy in the floppy infant. Brain. 1958; 81: 461-484.
    • (1958) Brain , vol.81 , pp. 461-484
    • Greenfield, J.G.1    Cornman, T.2    Shy, G.M.3
  • 5
    • 0024562039 scopus 로고
    • Central core disease: Ultrastructure of the sarcoplasmic reticulum and T tubules
    • Hayashi K, Miller RG, Brownell AK. Central core disease: ultrastructure of the sarcoplasmic reticulum and T tubules. Muscle Nerve. 1989; 12: 95-102.
    • (1989) Muscle Nerve , vol.12 , pp. 95-102
    • Hayashi, K.1    Miller, R.G.2    Brownell, A.K.3
  • 6
    • 0032145805 scopus 로고    scopus 로고
    • Fifty-year follow-up of a patient with central core disease shows slow but definite progression
    • Lamont PJ, Dubowitz V, Landon DN, Davis M, Morgan-Hughes JA. Fifty-year follow-up of a patient with central core disease shows slow but definite progression. Neuromuscul Disord. 1998; 8: 385-391.
    • (1998) Neuromuscul Disord , vol.8 , pp. 385-391
    • Lamont, P.J.1    Dubowitz, V.2    Landon, D.N.3    Davis, M.4    Morgan-Hughes, J.A.5
  • 7
    • 0028826509 scopus 로고
    • Discordance between phenotype and genotype in malignant hyperthermia
    • MacLennan DH. Discordance between phenotype and genotype in malignant hyperthermia. Curr Opin Neurol. 1995; 8: 397-401.
    • (1995) Curr Opin Neurol , vol.8 , pp. 397-401
    • MacLennan, D.H.1
  • 8
    • 0001478427 scopus 로고
    • A new congenital non-progressive myopathy
    • Magee KR, Shy GM. A new congenital non-progressive myopathy. Brain. 1956; 79: 610-621.
    • (1956) Brain , vol.79 , pp. 610-621
    • Magee, K.R.1    Shy, G.M.2
  • 9
    • 0032192324 scopus 로고    scopus 로고
    • A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance
    • Manzur AY, Sewry CA, Ziprin J, Dubowitz V, Muntoni F. A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance. Neuromuscul Disord. 1998; 8: 467-473.
    • (1998) Neuromuscul Disord , vol.8 , pp. 467-473
    • Manzur, A.Y.1    Sewry, C.A.2    Ziprin, J.3    Dubowitz, V.4    Muntoni, F.5
  • 11
    • 33646280085 scopus 로고
    • Central core fibers: Structured and unstructured
    • Kakulas BA(ed). Amsterdam: Excerpta Medica
    • Neville HE, Brooke MH. Central core fibers: structured and unstructured. In: Kakulas BA(ed). Basic research in myology. Amsterdam: Excerpta Medica; 1973. p. 497-511.
    • (1973) Basic Research in Myology , pp. 497-511
    • Neville, H.E.1    Brooke, M.H.2
  • 12
    • 0017883349 scopus 로고
    • Central core disease: Histochemical and ultrastructural study of muscle biopsies of father and daughter
    • Palmucci L, Schiffer D, Monga G, Mollo F, Marchi M. Central core disease: histochemical and ultrastructural study of muscle biopsies of father and daughter. J Neurol. 1978; 218: 55-62.
    • (1978) J Neurol , vol.218 , pp. 55-62
    • Palmucci, L.1    Schiffer, D.2    Monga, G.3    Mollo, F.4    Marchi, M.5
  • 13
    • 0018706258 scopus 로고
    • Central core disease: Clinical and pathological evidence of progression within a family
    • Patterson VH, Hill TR, Fletcher PJ, Heron JR. Central core disease: clinical and pathological evidence of progression within a family. Brain. 1979; 102: 581-594.
    • (1979) Brain , vol.102 , pp. 581-594
    • Patterson, V.H.1    Hill, T.R.2    Fletcher, P.J.3    Heron, J.R.4
  • 14
    • 0035660572 scopus 로고    scopus 로고
    • Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: Association with central core disease and alteration of calcium homeostasis
    • Tilgen N, Zorzato F, Halliger-Keller B et al. Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet. 2001; 10: 2879-2887.
    • (2001) Hum Mol Genet , vol.10 , pp. 2879-2887
    • Tilgen, N.1    Zorzato, F.2    Halliger-Keller, B.3
  • 15
    • 0028238304 scopus 로고
    • Expression of cytoskeleton proteins in central core disease
    • Vita G, Migliorato A, Baradello A et al. Expression of cytoskeleton proteins in central core disease. J Neurol Sci. 1994; 124: 71-76.
    • (1994) J Neurol Sci , vol.124 , pp. 71-76
    • Vita, G.1    Migliorato, A.2    Baradello, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.