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A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function.

P-C TsaiY-S TsaiB-W SoongY-H HuangH-T WuY-H ChenK-P LinY-C LiaoYi-Chung Lee
Published in: Clinical genetics (2017)
This study expands the molecular spectrum of DNAJB6 mutations and also emphasizes the pathogenic role of DNAJB6 dysfunction in distal-onset myopathy.
Keyphrases
  • late onset
  • minimally invasive
  • muscular dystrophy
  • single molecule
  • myasthenia gravis
  • duchenne muscular dystrophy