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We herein report on a Japanese boy with infantile neuronal ceroid lipofuscinosis (INCL). He was born of incest to a girl and her maternal uncle. His development was normal at 12 months, and began to display regression at 14 months. He lost his social smile and tracking eye movement at 16 months, and could not stand and developed severe hypotonic tetraplegia at 19 months. Myoclonic movement was observed...
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