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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Acta Neuropathol Commun
Prif Awduron: Sandell, Satu, Huovinen, Sanna, Palmio, Johanna, Raheem, Olayinka, Lindfors, Mikaela, Zhao, Fang, Haapasalo, Hannu, Udd, Bjarne
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2016
Pynciau:
Mynediad Ar-lein: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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