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Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.

Rachel StraussbergGudrun SchottmannMenachem SadehEsther GillFranziska SeifertAyelet HalevyKaiyal QassemJohn RenduPeter F M van der VenWerner StenzelMarkus Schuelke
Published in: Acta neuropathologica (2016)
Keyphrases
  • late onset
  • muscular dystrophy
  • myasthenia gravis