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juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (JNCL/GROD)
Pathology:
- ultrastructurally characterized by fingerprints &/or curvilinear bodies in many cell types.
Genetics:
-> aberrant gene PPT1 (see OMIM)
Related
lipofuscin
palmitoyl protein thioesterase 1; palmitoyl-protein hydrolase 1 (PPT1, PPT)
General
juvenile neuronal ceroid lipofuscinosis (JNCL)
Properties
ACCUMULATION: lipofuscin
ceroid
Database Correlations
OMIM 600680
References
OMIM :accession 600680