Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort
作者: Koen L. I. van GassenCharlotte D. C. C. van der HeijdenSusanne T. de BotWilfred F. A. den DunnenLeonard H. van den BergCorien C. Verschuuren-BemelmansH. P. H. KremerJan H. VeldinkErik-Jan KamsteegHans SchefferBart P. van de Warrenburg
刊名: Brain, 2012, Vol.135 (10), pp.2994-3004
来源数据库: Oxford University Press
DOI: 10.1093/brain/aws224
原始语种摘要: Spastic paraplegia type 7 is an autosomal recessive neurodegenerative disorder mainly characterized by progressive bilateral lower limb spasticity and referred to as a form of hereditary spastic paraplegia. Additional disease features may also be observed as part of a more complex phenotype. Many different mutations have already been identified, but no genotype–phenotype correlations have been found so far. From a total of almost 800 patients referred for testing, we identified 60 patients with mutations in the SPG7 gene. We identified 14 previously unreported mutations and detected a high recurrence rate of several earlier reported mutations. We were able to collect detailed clinical data for 49 patients, who were ranked based on a pure versus complex phenotype, ataxia versus no...
全文获取路径: Oxford U Press 
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影响因子:9.915 (2012)

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关键词翻译
关键词翻译
  • 优势 伙伴
  • phenotype 表型
  • paraplegia 截瘫
  • spastic 痉挛
  • cohort 伙伴
  • predominant 伙伴
  • observed 观察到的
  • counterpart 对称物
  • complex 超群
  • SPG 春天
  • ataxia 运动失调