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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Acta Neuropathol Commun
Egile Nagusiak: Sandell, Satu, Huovinen, Sanna, Palmio, Johanna, Raheem, Olayinka, Lindfors, Mikaela, Zhao, Fang, Haapasalo, Hannu, Udd, Bjarne
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2016
Gaiak:
Research
Sarrera elektronikoa: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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