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.
| Original language | English |
|---|---|
| Pages (from-to) | 1553-1559 |
| Number of pages | 7 |
| Journal | European Journal of Neurology |
| Volume | 20 |
| DOIs | |
| Publication status | Published - 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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