Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
Juvenile neuronal ceroid lipofuscinosis (JNCL, NCL3, Batten disease) is usually caused by a 1.02-kb deletion in the CLN3 gene. Mutations in the CLN1 gene may be associated with a variant form of JNCL (vJNCL). We report the clinical course and molecular studies in 24 patients with JNCL collected from 1975 to 2010 with the aim of assessing the natural history of the disorder and phenotype/genotype correlations.
Version: za2963e q8zab q8zb8 q8zc7 q8zdb q8ze1 q8zf1 q8zga