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Ryanodine Receptor 1 (RYR1) Mutations in Two Patients with Tubular Aggregate Myopathy

Gaetano Nicola Alfio Vattemi,Daniela Rossi,Lucia Galli,Maria Rosaria Catallo,Elia Pancheri,Giulia Marchetto,Barbara Cisterna,Manuela Malatesta,Enrico Pierantozzi,Paola Tonin,Vincenzo Sorrentino

European journal of neuroscience/EJN European journal of neuroscience（2022）

引用 4|浏览21
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关键词
excitation-contraction coupling,ryanodine receptor,store-operated Ca2+ entry,tubular aggregates
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