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Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D
INTRODUCTION: Limb girdle muscular dystrophies are a large group of both dominantly and recessively inherited muscle diseases. LGMD1D is caused by mutated DNAJB6 and the molecular pathogenesis is mediated by defective chaperonal function leading to impaired handling of misfolded proteins which norma...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Acta Neuropathol Commun |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4743201/ https://ncbi.nlm.nih.gov/pubmed/26847086 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-016-0276-9 |
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