Novel TRIM32 mutation in sarcotubular myopathy

Tripartite motif-containing protein 32 (TRIM32) is a member of the TRIM ubiquitin E3 ligases which ubiquitinates different substrates in muscle including sarcomeric proteins. Mutations in TRIM32 are associated with Limb-Girdle Muscular Dystrophy 2H. In a 66 old woman with disto-proximal myopathy, we...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Acta Myol
Päätekijät: PANICUCCI, CHIARA, TRAVERSO, MONICA, BARATTO, SERENA, ROMEO, CHIARA, IACOMINO, MICHELE, GEMELLI, CHIARA, TAGLIAFICO, ALBERTO, BRODA, PAOLO, ZARA, FEDERICO, BRUNO, CLAUDIO, MINETTI, CARLO, FIORILLO, CHIARA
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Pacini Editore srl 2019
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Original Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6598407/
https://ncbi.nlm.nih.gov/pubmed/31309175
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