Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy-论文-万方医学网

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Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy

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第一作者： Gaetano Nicola Alfio Vattemi

作者： Gaetano Nicola Alfio Vattemi ^[1] ; Daniela Rossi ^[2] ; Lucia Galli ^[3] ; Maria Rosaria Catallo ^[4] ; Elia Pancheri ; Giulia Marchetto ; Barbara Cisterna ; Manuela Malatesta ; Enrico Pierantozzi ; Paola Tonin ; Vincenzo Sorrentino

作者单位： Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology ^[1] Department of Molecular and Developmental Medicine, Molecular Medicine Section,University of Siena ^[2] Interdepartmental Program of Molecular Diagnosis and Pathogenetic Mechanisms of Rare Genetic ^[3] Department of Neurosciences, Biomedicine and Movement Sciences, Section of Anatomy and Histology ^[4]

关键词 excitation–contraction coupling ryanodine receptor store‐operated Ca2+ entry tubular aggregates

发布时间 2022-09-30

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Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy

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