Article
Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.
Human molecular genetics - 1 Apr 1997
Sharp J D, Wheeler R B, Lake B D, Savukoski M, Järvelä I E, Peltonen L, Gardiner R M, Williams R E
Abstract excerpt
The childhood neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative disorders characterised by progressive visual failure, neurodegeneration, epilepsy and the accumulation of an autofluorescent lipopigment in neurones and other cells. Three main subtypes have been identified according to age of onset, clinical features and ultrastructural morphology. These are infantile NCL...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.