Article
Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis.
Annals of neurology - 1 Jan 1998
Wisniewski K E, Zhong N, Kaczmarski W, Kaczmarski A, Kida E, Brown W T, Schwarz K O, Lazzarini A M, Rubin A J, Stenroos E S, Johnson W G, Wisniewski T M
Abstract excerpt
We present a clinicopathological study and the first molecular genetic analysis of a family with 2 siblings affected by a rare, protracted form of juvenile neuronal ceroid lipofuscinosis (JNCL). Molecular genetic studies showed that both siblings, in addition to being heterozygous for the 1.02-kb CLN3 deletion, a common mutation in JNCL, also had a G-to-A missense mutation at nucleotide 1,020 of the CLN3 cDNA...
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