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Autophagic vacuolar myopathy is a common feature of CLN 3 disease

14 Oct 2018

Abstract excerpt

OBJECTIVE: The neuronal ceroid lipofuscinoses (NCL) are genetic degenerative disorders of brain and retina. NCL with juvenile onset (JNCL) is genetically heterogeneous but most frequently caused by mutations of CLN3. Classical juvenile CLN3 includes a rare protracted form, which has previously been linked to autophagic vacuolar myopathy (AVM). Our study investigates the association of AVM with classic,...

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PMID: 30480032
DOI: 10.1002/acn3.662

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