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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...
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| Publicado no: | Acta Neuropathol Commun |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2016
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| Assuntos: | |
| Acesso em linha: | 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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