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  • Title: Case of X-linked myopathy with excessive autophagy.
    Author: Chow G, Beesley CE, Robson K, Winchester BG, Holton JL.
    Journal: J Child Neurol; 2006 May; 21(5):431-3. PubMed ID: 16901453.
    Abstract:
    We report a 12-year-old boy with a vacuolar myopathy with clinical and histologic features of X-linked myopathy with excessive autophagy. This is a rare and slowly progressive disease of skeletal muscle without cardiac, nervous system, or other organ involvement. The differential diagnosis of vacuolar myopathy includes acid maltase deficiency, Danon disease, and X-linked myopathy with excessive autophagy.
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