Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

Abstract

The neuronal ceroid lipofuscinoses (NCLs) are a clinically and genetically heterogeneous group of severe neurodegenerative diseases characterized by the intracellular accumulation of autofluorescent lipopigment storage material in both neural and peripheral tissues. The clinical course includes progressive dementia, seizures, and progressive visual failure… (More)
DOI: 10.1007/s10072-015-2439-z

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