A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in COL6A1: Almost Overlooked

Neurology. 2024 Jun;102(11):e209476. doi: 10.1212/WNL.0000000000209476. Epub 2024 May 16.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Collagen Type VI* / genetics
  • Contracture / genetics
  • Female
  • Humans
  • Male
  • Muscular Dystrophies / congenital
  • Muscular Dystrophies / genetics
  • Sequence Deletion / genetics

Substances

  • Col6a1 protein, human

Supplementary concepts

  • Bethlem myopathy