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中央轴空病 被引量:3

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摘要 中央轴空病(CCD)首先由Shy和Magee于1956年报道,1958年Greenfield将其命名为CCD,为一常染色体显性遗传性肌病,主要表现为进展缓慢或无进展的四肢近端无力、肌萎缩,婴儿期或儿童期运动发育迟滞。研究已发现,
出处 《临床神经病学杂志》 CAS 北大核心 2010年第4期314-315,共2页 Journal of Clinical Neurology
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  • 1Fujimura-Kiyono C, Racz GZ, Nishino I. Neurol India, 2008, 56 :325.
  • 2Romero NB, Monnier N, Viollet L, et al. Brain, 2003, 126:2341.
  • 3Shepherd S, Ellis F, Halsall J, et al. J Med Genet, 2004, 41 e33.
  • 4Monnier N, Romero NB, Lerale J, et al. Hum Mol Genet, 2001 10: 2581.
  • 5Davis MR, Haan E, Jungbluth H, et al. Neuromuscul Disord 2003, 13: 151.
  • 6Wu S, Ibarra MC, Malicdan MG, et al. Brain, 2006, 129:1470.
  • 7Fananapazir L, Dalakas MC, Cyran F, et al. Proc Natl Acad Sci USA, 1993, 90:3993.
  • 8Avila G, Lee E, Perez CF, et al. J Biol Chem, 2003,278:22600.
  • 9Lyfenko AD, Goonasekera SA, Dirksen RT. Biochem Biophys Res Commun, 2004, 322 : 1256.
  • 10Treves S, Anderson AA, Ducreux S, et al. Neuromuscul Disord, 2005, 15:577.

同被引文献23

  • 1殷飞,江新梅,胡静,李娜.中央轴空病2例临床及病理分析[J].中风与神经疾病杂志,2006,23(5):538-540. 被引量:2
  • 2吴士文,马维娅,于生元,沈定国,IchizO Nishino.28例中央轴空病的临床病理分析[J].中华神经医学杂志,2006,5(6):597-600. 被引量:7
  • 3Quinlivan RM, Muller CR, Davis M, et al. Central core disease : clini- cal,pathological,and genetic features. Arch Dis Child,2003,8 (8) : 1051 - 1055.
  • 4Zhou H, Junqbluth H, Sewry CA, et al. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain, 2007,130 ( 8 ) :2024-2036.
  • 5Wu S, Ibarra MC, Malicdan MC,et al. Central core disease is due to RYRI mutations in more than 90% of patients. Brain, 2006, 129(6) : 1470-1480.
  • 6Sewry CA, Muller C, Davis M, et al. The spectrum of pathology in central core disease. Neuromuscul Disord ,2002,12 ( 10 ) :930-938.
  • 7Ghassemi F, Vukcevic M, Xu L,et al. A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. Cell Calcium .2009.45 ( 2 ) : 192-197.
  • 8Zvaritch E, Kraeva N, Bombardie E, et al. Ca2 ^2+ dysregulation in Ryrl14895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods. PNAS, 2009,12 (106) :21812-21828.
  • 9Shepherd S,Ellis F,Halsall J, et al. RYR1 mutations in UK central core disease patients:more than just the C-terminal transmembrane region of the RYR1 gene. J Med Genet ,2004,41 (3) :33-42.
  • 10Lyfenko AD, Ducreux S, Wang Y, et al. Two central core disease (CCD) deletions in the C-terminal region of rYRI alter muscle excitation-contraction (EC) coupling by distinct mechanisms. Hum Mutat ,2007,28 (1) :61 ~68.

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