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Filamin C-related myopathies: pathology and mechanisms

The term filaminopathy was introduced after a truncating mutation in the dimerization domain of filamin C (FLNc) was shown to be responsible for a devastating muscle disease. Subsequently, the same mutation was found in patients from diverse ethnical origins, indicating that this specific alteration...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Acta Neuropathol
Egile Nagusiak: Fürst, Dieter O., Goldfarb, Lev G., Kley, Rudolf A., Vorgerd, Matthias, Olivé, Montse, van der Ven, Peter F. M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2012
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5127197/
https://ncbi.nlm.nih.gov/pubmed/23109048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-012-1054-9
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