Three related patients from Colombia presented with a juvenileonset neuronal c eroid lipofuscinosis. Electron microscopy of one case showed condensed fingerpri nt profiles, and genetic analyses identified a novel miss...Three related patients from Colombia presented with a juvenileonset neuronal c eroid lipofuscinosis. Electron microscopy of one case showed condensed fingerpri nt profiles, and genetic analyses identified a novel missense mutation in CLN5. The authors demonstrate the existence of pathogenic CLN5 mutations outside north ern Europe and that mutations in this gene can lead to an atypical late-onset n euronal ceroid lipofuscinosis disease, in addition to the late infantile form fi rst described inFinland.展开更多
文摘Three related patients from Colombia presented with a juvenileonset neuronal c eroid lipofuscinosis. Electron microscopy of one case showed condensed fingerpri nt profiles, and genetic analyses identified a novel missense mutation in CLN5. The authors demonstrate the existence of pathogenic CLN5 mutations outside north ern Europe and that mutations in this gene can lead to an atypical late-onset n euronal ceroid lipofuscinosis disease, in addition to the late infantile form fi rst described inFinland.
