Login / Signup

A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores.

Lei ChenDian-Fu ChenHai-Lin DongGong-Lu LiuZhi-Ying Wu
Published in: CNS neuroscience & therapeutics (2021)
Our results expanded the phenotypes of ACTN2-related myopathy and provided helpful information to clarify the molecular mechanisms.
Keyphrases
  • late onset
  • muscular dystrophy
  • minimally invasive
  • early onset
  • health information
  • healthcare
  • myasthenia gravis
  • social media