Загрузка...

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...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Acta Neuropathol Commun
Главные авторы: Sandell, Satu, Huovinen, Sanna, Palmio, Johanna, Raheem, Olayinka, Lindfors, Mikaela, Zhao, Fang, Haapasalo, Hannu, Udd, Bjarne
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2016
Предметы:
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!