Why the study?
What are the differences in muscle imaging patterns between dominant core myopathies linked and unlinked to the RYR1 gene?
Population
16 patients with central core disease or core myopathies, including 11 with an RYR1 gene mutation and 5 from…
Comparison
Systematic muscular imaging assessment (muscle CT) vs Comparison between RYR1-linked and…
Design
Cross-sectional
Authors
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Distinct MRI patterns may aid differentiation of RYR1 CCD from other core myopathies; leaves open unidentified genes and needs prospective validation.
What are the differences in muscle imaging patterns between dominant core myopathies linked and unlinked to the RYR1 gene?
Muscle imaging reveals distinct patterns of involvement in dominant core myopathies, suggesting genetic heterogeneity and the existence of unidentified genes in non-RYR1 cases.
Fischer et al. (2006) studied this question.
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