Population
Immortalized lymphoblastoid cell lines from 24 subjects (patients with RYR1 variants and controls)
Comparison
Stimulation with 4-chloro-m-cresol (4-CmC) vs Control cell lines
Design
Preclinical
Authors
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Cellular RYR1 activity data aid variant pathogenicity assessment; leaves open impact on clinical decision-making in myopathies.
Acidification rate measurements can monitor Ca(2+)-induced metabolic changes in cells harboring mutant RYR1 channels, corroborating the functional impact of disease-causing variants.
Zullo et al. (2009) studied this question.
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