Article
A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16.
Genomics - 15 Mar 1994
Williams R, Santavuori P, Peltonen L, Gardiner R M, Järvelä I
Abstract excerpt
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types. The biochemical basis of these diseases is unknown. Three main childhood forms are recognized: infantile...
Topics
- Adolescent
- Age of Onset
- Alleles
- Base Sequence
- Child
- Child, Preschool
- Chromosomes, Human, Pair 16
- DNA
- Genetic Markers
- Humans
- Lod Score
- Molecular Sequence Data
- Neuronal Ceroid-Lipofuscinoses
- Tripeptidyl-Peptidase 1