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Schwart-Jampel综合征1例 被引量:1

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出处 《中国实用儿科杂志》 CSCD 北大核心 2004年第7期419-419,共1页 Chinese Journal of Practical Pediatrics
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  • 1Schwartz 0,Jampel R. Congenital blepharophimosis associated with a unique generalized myopathy[J]. Arch Ophthalmol, 1962 , 68 (1 ) :52-57.
  • 2Iwata S, Itoa M, Nakata T, et al. A missense mutation in domain III in HSPG2 in Schwartz-lampelsyndrome compromises secretion of perlecan into the extracellular space[J]. Neuromuscul Disord, 2015, 25 (8) :667 -671.
  • 3Di Rocco M, Stella G, Bruno C, et al. Long-term survival in StuveWiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia[J]. AmJ Med Genet A, 2003, 118( 4) :362-368.
  • 4Sturn M, Davoine CS, Vicart S, et al' Spectrum of HSPG2 ( Perlecan) mutations in patients with Schwartz-Jampel syndrome[J]. Hum Mutat,2006 ,27( 11) : 1082-1091.
  • 5Rodgers KD, Sasaki T, Aszodi A, et al. Reduced perlecan in miceresults in chondrodysplasia resembling Schwartz-Jampel syndrome[J]. Hum Mol Genet ,2007 ,16(5) :515,528.
  • 6Giedion A, Boltshauser E, BrinerJ. et al. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia] J]. EuropJ Pediat, 1997,27(5): 214-223.
  • 7Aryaa R, Sharmaa S, Gupta N. SchwartzJampel syndrome in children[J].J Clin Neurosci, 2013,20(2) :313-317.
  • 8AI-Gazali LI, Varghese M, Varady E, et al. Neonatal SchwartzJampel syndrome: acommon autosomal recessive syndrome in the United Arab Emirates[J].J Med Genet, 1996,33(3) :203-211.
  • 9Sreekanth K, Cynthia K, Nigel M. Schwartz-Jampel syndrome: a review of the literature and case report[J]. Spec Care Dentist, 2012,32(3) :105-111.
  • 10Nicole S, Davoine CS, Topaloglu H, et al. Perlecan, the major proteogjycan of basementmembranes, is altered in patients with Schwartz-Jampelsyndrome (chondrodystrophic myotonia)[J]. Nat Genet, 2000, 26(4) :480483.

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