Key result
A 17-year-old boy with cytoplasmic body myopathy developed hypertrophic cardiomyopathy, suggesting a shared Z-line component abnormality in skeletal and cardiac muscles.
Population
17-year-old Japanese boy with cytoplasmic body myopathy presenting with severe muscular atrophy, scoliosis…
Design
Case_report
Follow-up
3 months
Authors
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Alerts clinicians to screen for HCM in cytoplasmic body myopathy; leaves open shared Z-line genetic defect needing confirmation.
Case Report (n=1)
No
This is the first reported case of cytoplasmic body myopathy coexisting with hypertrophic cardiomyopathy, suggesting a possible shared genetic defect in a Z-line component.
Sekijima et al. (1995) conducted a case report in Cytoplasmic Body Myopathy with Hypertrophic Cardiomyopathy (n=1). Cytoplasmic body myopathy was evaluated on Clinical and pathological findings. A 17-year-old boy with cytoplasmic body myopathy developed hypertrophic cardiomyopathy, suggesting a shared Z-line component abnormality in skeletal and cardiac muscles.
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