Muscle biopsy and MRI findings in ANO5-related myopathy

Muscle Nerve. 2021 Dec;64(6):743-748. doi: 10.1002/mus.27419. Epub 2021 Oct 7.


Introduction/aims: Mutations in the anoctamin 5 (ANO5) gene are a common cause of muscular dystrophy. We aimed to investigate whether inflammatory changes in muscle are present in patients with ANO5 myopathy when assessed by muscle biopsy and muscle magnetic resonance imaging (MRI).

Methods: Adults with pathogenic variations in ANO5 known to cause muscular dystrophy were included in our study. Muscle biopsies of pelvic and lower extremity muscles were reviewed retrospectively. Muscle MR short-tau inversion recovery (STIR) images of a subset of these patients were obtained prospectively.

Results: Muscle biopsies from 24 patients were reviewed. MR STIR images were performed in 17 of these patients. We found inflammatory changes in muscle biopsies of three patients and MRI revealed hyperintense signals on STIR images in 14 of 17 patients.

Discussion: In this study, we found that muscle edema is very common in patients with ANO5 myopathy and that some patients have inflammatory changes in muscle biopsies. Further studies are needed to determine whether the STIR+ lesions reflect inflammation.

Keywords: ANO5; LGMD2L; LGMDR12; anoctaminopathy; inflammatory myopathy.

MeSH terms

  • Adult
  • Anoctamins* / genetics
  • Biopsy
  • Humans
  • Magnetic Resonance Imaging
  • Muscle, Skeletal / diagnostic imaging
  • Muscle, Skeletal / pathology
  • Muscles
  • Muscular Diseases* / diagnostic imaging
  • Muscular Diseases* / genetics
  • Muscular Diseases* / pathology
  • Mutation / genetics
  • Retrospective Studies


  • ANO5 protein, human
  • Anoctamins