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 originale | English |
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pagine (da-a) | 1553-1559 |
Numero di pagine | 7 |
Rivista | EUROPEAN JOURNAL OF NEUROLOGY |
Volume | 20 |
DOI | |
Stato di pubblicazione | Pubblicato - 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