Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy

Autor: Ruth Salim, Konni Kass, Karoline Lolk Revsbech, Josefine de Stricker Borch, Tahmina Khawajazada, John Vissing, Aisha Munawar Sheikh, Julia R. Dahlqvist

Publikováno v: Journal of Neurology. 267:2432-2442

Using MRI, the main aim was to (1) map the pattern of muscle involvement by assessing fat fraction and (2) investigate frequency of target and sandwich signs in 42 muscles of patients with Bethlem myopathy (BM). Fifteen BM patients were included. Res

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e15c9b9eefb434f52a0e262fe679acb
https://doi.org/10.1007/s00415-020-09860-x

Muscle biopsy and MRI findings in ANO5-related myopathy

Autor: John Vissing, Konni Kass, Sonja Holm-Yildiz, Josefine de Stricker Borch, Tahmina Khawajazada, Nanna Witting, Thomas Krag

Publikováno v: Holm-Yildiz, S, Witting, N, de Stricker Borch, J, Kass, K, Khawajazada, T, Krag, T & Vissing, J 2021, ' Muscle biopsy and MRI findings in ANO5-related myopathy ', Muscle and Nerve, vol. 64, no. 6, pp. 743-748 . https://doi.org/10.1002/mus.27419

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c909e63c810049901362c751abd7c82
https://curis.ku.dk/ws/files/286302137/Muscle_biopsy_and_MRI_findings_in_ANO5_related_myopathy.pdf