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Pineda-Trujillo N Cornejo W Carrizosa J Wheeler RB Múnera S Valencia A Agudelo-Arango J Cogollo A Anderson G Bedoya G Mole SE Ruíz-Linares A 《Neurology》2005,64(4):740-742
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 lipofuscinosis disease, in addition to the late infantile form first described in Finland. 相似文献