3 Matching Annotations
  1. Feb 2026
  2. www.nature.com www.nature.com
    Vacuolar myopathy caused by CASQ1 p.Asp244His: pathogenic evidence from two unrelated Chinese families
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    nature.com/articles/s10038-026-01461-2
  3. Dec 2025
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Characterization of novel CASQ1 variants in two families with unusual phenotypic features
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    pmc.ncbi.nlm.nih.gov/articles/PMC12662904/
  5. Jun 2021
  6. physoc.onlinelibrary.wiley.com physoc.onlinelibrary.wiley.com
    Neuromuscular junction instability and altered intracellular calcium handling as early determinants of force loss during unloading in humans
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    physoc.onlinelibrary.wiley.com/doi/10.1113/JP281365