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Loss of Calpain-3 Autocatalytic Activity in LGMD2A Patients with Normal Protein Expression

The diagnosis of limb girdle muscular dystrophy (LGMD) type 2A (due to mutations in the gene encoding for calpain-3) is currently based on protein analysis, but mutant patients with normal protein expression have also been identified. In this study we investigated 150 LGMD patients with normal calpa...

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Bibliografiske detaljer
Main Authors: Fanin, Marina, Nascimbeni, Anna Chiara, Fulizio, Luigi, Trevisan, Carlo Pietro, Meznaric-Petrusa, Marija, Angelini, Corrado
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Investigative Pathology 2003
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1892408/
https://ncbi.nlm.nih.gov/pubmed/14578192
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