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

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第一作者： Gaetano Nicola Alfio,Vattemi

第一单位： Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.

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

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

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

主题词人类(Humans);恶性高热(Malignant Hyperthermia);肌, 骨骼(Muscle, Skeletal);突变(Mutation);肌病, 结构性, 先天性(Myopathies, Structural, Congenital);兰尼碱受体钙释放通道(Ryanodine Receptor Calcium Release Channel)

DOI 10.1111/ejn.15728

PMID 35666680

发布时间 2022-10-15

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