Ontology highlight
ABSTRACT:
SUBMITTER: Rossi D
PROVIDER: S-EPMC4177304 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Rossi Daniela D Vezzani Bianca B Galli Lucia L Paolini Cecilia C Toniolo Luana L Pierantozzi Enrico E Spinozzi Simone S Barone Virginia V Pegoraro Elena E Bello Luca L Cenacchi Giovanna G Vattemi Gaetano G Tomelleri Giuliano G Ricci Giulia G Siciliano Gabriele G Protasi Feliciano F Reggiani Carlo C Sorrentino Vincenzo V
Human mutation 20140910 10
A missense mutation in the calsequestrin-1 gene (CASQ1) was found in a group of patients with a myopathy characterized by weakness, fatigue, and the presence of large vacuoles containing characteristic inclusions resulting from the aggregation of sarcoplasmic reticulum (SR) proteins. The mutation affects a conserved aspartic acid in position 244 (p.Asp244Gly) located in one of the high-affinity Ca(2+) -binding sites of CASQ1 and alters the kinetics of Ca(2+) release in muscle fibers. Expression ...[more]