Key result
An 8-year-old boy from India was diagnosed with X-linked myopathy with excessive autophagy based on characteristic muscle biopsy findings and confirmed by VMA21 gene mutation analysis.
Why the study?
X-linked myopathy with excessive autophagy is an under-recognized cause of slowly progressive myopathy in children that must be distinguished from other vacuolar myopathies given its favorable prognosis.
Population
An 8-year-old boy from India with X-linked myopathy with excessive autophagy
Design
Case report
Authors
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Supports considering XMEA in pediatric myopathy differentials; extends reports geographically but leaves open prevalence and management questions.
Case Report (n=1)
No
Highlights the importance of considering XMEA in the differential diagnosis of slowly progressive myopathy in children due to its favorable prognosis.
Rajeshwari et al. (2022) conducted a case report in X-linked myopathy with excessive autophagy (XMEA) (n=1). An 8-year-old boy from India was diagnosed with X-linked myopathy with excessive autophagy based on characteristic muscle biopsy findings and confirmed by VMA21 gene mutation analysis.
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