Article
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
Neurology - 22 Feb 2005
Pineda-Trujillo N, Cornejo W, Carrizosa J, Wheeler R B, Múnera S, Valencia A, Agudelo-Arango J, Cogollo A, Anderson G, Bedoya G, Mole S E, Ruíz-Linares A
Abstract excerpt
Three related patients from Colombia presented with a juvenile-onset neuronal ceroid lipofuscinosis. Electron microscopy of one case showed condensed fingerprint profiles, and genetic analyses identified a novel missense mutation in CLN5. The authors demonstrate the existence of pathogenic CLN5 mutations outside northern Europe and that mutations in this gene can lead to an atypical late-onset neuronal ceroid...
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