'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D

S. M. Sandell, I. Mahjneh, J. Palmio, G. Tasca, Giorgio Tasca, Enzo Ricci, B. A. Udd

Risultato della ricerca: Contributo in rivistaArticolo in rivista

27 Citazioni (Scopus)


We have previously reported clinical, genetic and molecular pathomechanistic findings in DNAJB6 mutated LGMD1D. After publishing clinical findings of the original Finnish family we identified more Finnish, Italian and US families with the same disease, ultimately confirmed by mutations in the same gene.
Lingua originaleEnglish
pagine (da-a)1553-1559
Numero di pagine7
RivistaEuropean Journal of Neurology
Stato di pubblicazionePubblicato - 2013


  • Adult
  • Aged
  • DNAJB6 myopathy
  • Female
  • Finland
  • HSP40 Heat-Shock Proteins
  • Humans
  • LGMD
  • LGMD1D
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Molecular Chaperones
  • Muscle, Skeletal
  • Muscular Dystrophies, Limb-Girdle
  • Nerve Tissue Proteins
  • Pedigree
  • autosomal dominant LGMD
  • limb-girdle muscular dystrophy


Entra nei temi di ricerca di ''Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D'. Insieme formano una fingerprint unica.

Cita questo