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...
Topics
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- Chromosomes, Human, Pair 15
- Consanguinity
- Female
- Genetic Linkage
- Genetic Markers
- Genetic Testing
- Genotype
- Homozygote
- Humans
- Lod Score
- Male
- Neuronal Ceroid-Lipofuscinoses
- Pedigree
- Phenotype
- Tripeptidyl-Peptidase 1