'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

27 Citazioni (Scopus)

Abstract

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
Volume20
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

  • 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

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