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Myopathy and Cystine Storage in Muscles in a Patient with Nephropathic Cystinosis
NEJM 392:1461-1464, Gahl,W.A.,et al, 1988
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cystinosis
electromyogram
growth retardation
lysosomal storage disease
muscle biopsy
muscle weakness
myopathy
photophobia
renal failure
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