Article
Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis.
Neurogenetics - 1 Mar 1998
Haines J L, Boustany R M, Alroy J, Auger K J, Shook K S, Terwedow H, Lerner T J
Abstract excerpt
Classical late-infantile neuronal ceroid lipofuscinosis (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by seizures, loss of vision, and progressive motor and mental deterioration. The hallmark of this disease is the accumulation of enlarged, secondary lysosomes packed with curvilinear bodies in cells of affected individuals. The biochemical basis of LINCL remains unknown and...
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