Congenital-onset hypertrophic cardiomyopathy and skeletal myopathy with nemaline rods and actin filament aggregates due to likely pathogenic recessive variants in CFL2

著录项

• 来源
  《Neuromuscular disorders: NMD》 |2019年第1期|共1页
• 作者

  Phadke R.; Childs A.; Manzur A.; Munot P.; Mein R.; Sarkozy A.; Sewry C.; Muntoni F.;

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• 作者单位

  UCL Inst Neurol Natl Hosp London England;

  Leeds Teaching Hosp Leeds W Yorkshire England;

  Great Ormond St Hosp Sick Children London England;

  Great Ormond St Hosp Sick Children London England;

  Guys Hosp London England;

  Great Ormond St Hosp Sick Children London England;

  Great Ormond St Hosp Sick Children London England;

  UCL Inst Child Hlth London England;

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• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类 神经病学;
• 关键词