Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

  1. Johnson, K.
  2. Bertoli, M.
  3. Phillips, L.
  4. Töpf, A.
  5. Van den Bergh, P.
  6. Vissing, J.
  7. Witting, N.
  8. Nafissi, S.
  9. Jamal-Omidi, S.
  10. Łusakowska, A.
  11. Kostera-Pruszczyk, A.
  12. Potulska-Chromik, A.
  13. Deconinck, N.
  14. Wallgren-Pettersson, C.
  15. Strang-Karlsson, S.
  16. Colomer, J.
  17. Claeys, K.G.
  18. De Ridder, W.
  19. Baets, J.
  20. von der Hagen, M.
  21. Fernández-Torrón, R.
  22. Zulaica Ijurco, M.
  23. Espinal Valencia, J.B.
  24. Hahn, A.
  25. Durmus, H.
  26. Willis, T.
  27. Xu, L.
  28. Valkanas, E.
  29. Mullen, T.E.
  30. Lek, M.
  31. MacArthur, D.G.
  32. Straub, V.
  33. Show all authors +
Journal:
Skeletal Muscle

ISSN: 2044-5040

Year of publication: 2018

Volume: 8

Issue: 1

Type: Article

DOI: 10.1186/S13395-018-0170-1 GOOGLE SCHOLAR lock_openOpen access editor

Sustainable development goals

Data source: Scopus