'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

@article{Sandell2013PathognomonicMI,
  title={'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.},
  author={Satu Sandell and Ibrahim Mahjneh and Johanna Palmio and Giorgio Tasca and Enzo Ricci and Bjarne A. Udd},
  journal={European journal of neurology},
  year={2013},
  volume={20 12},
  pages={1553-9}
}
BACKGROUND AND PURPOSE 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. METHODS Of the total number of 28 examined Finnish and Italian patients 23 underwent lower limb muscle imaging. RESULTS At the early stages of the disease fatty… CONTINUE READING
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