New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses

INTRODUCTION: Myofibrillar myopathies are characterized by progressive muscle weakness and impressive abnormal protein aggregation in muscle fibers. In about 10 % of patients, the disease is caused by mutations in the MYOT gene encoding myotilin. The aim of our study was to decipher the composition...

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Dettagli Bibliografici
Pubblicato in:Acta Neuropathol Commun
Autori principali: Maerkens, A., Olivé, M., Schreiner, A., Feldkirchner, S., Schessl, J., Uszkoreit, J., Barkovits, K., Güttsches, A. K., Theis, V., Eisenacher, M., Tegenthoff, M., Goldfarb, L. G., Schröder, R., Schoser, B., van der Ven, P. F. M., Fürst, D. O., Vorgerd, M., Marcus, K., Kley, R. A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2016
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4739336/
https://ncbi.nlm.nih.gov/pubmed/26842778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-016-0280-0
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