Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1

Tubular aggregate myopathy is a genetically heterogeneous disease characterized by tubular aggregates as the hallmark on muscle biopsy. Mutations in STIM1 have recently been identified as one genetic cause in a number of tubular aggregate myopathy cases. To characterize the pattern of muscle involve...

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Библиографические подробности
Опубликовано в: :Neuromuscul Disord
Главные авторы: Tasca, Giorgio, D'Amico, Adele, Monforte, Mauro, Nadaj-Pakleza, Aleksandra, Vialle, Marc, Fattori, Fabiana, Vissing, John, Ricci, Enzo, Bertini, Enrico
Формат: Artigo
Язык:Inglês
Опубликовано: Pergamon Press 2015
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4768080/
https://ncbi.nlm.nih.gov/pubmed/26255678
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2015.07.008
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