Article
Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis.
Neurology - 15 Jan 1999
Lauronen L, Munroe P B, Järvelä I, Autti T, Mitchison H M, O'Rawe A M, Gardiner R M, Mole S E, Puranen J, Häkkinen A M, Kirveskari E, Santavuori P
Abstract excerpt
OBJECTIVE: To correlate the phenotypes with the genotypes of 10 Finnish juvenile neuronal ceroid lipofuscinosis (JNCL; late-onset Batten disease) patients who all are compound heterozygotes for the major 1.02-kb deletion in the CLN3 gene. METHODS: The mutations on the non-1.02-kb deletion chromosomes were screened in 6 patients; in the other 4 patients the mutations were known (one affecting a splice site, two...
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