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Previous Volume 348:2159 May 22, 2003 Number 21 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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To the Editor: Rust and Karluk (Aug. 29 issue)¹ discuss the case of a child with a neurodegenerative disorder who was found to have curvilinear lysosomal inclusion bodies on electron-micrographic analysis of a muscle-biopsy specimen. Late-onset infantile neuronal ceroid lipofuscinosis was diagnosed. The approach to confirming this diagnosis is puzzling.

The authors mention that subsequent molecular testing for the two common mutations of CLN2 failed to identify a mutation, but no enzyme testing was performed. Given that only 66 percent of patients with a clinical diagnosis of late-onset infantile neuronal ceroid lipofuscinosis are found to have mutations in CLN2,² a . . . [Full Text of this Article]

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