Clinical and magnetic resonance imaging
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Dr. Irma JΓ€rvelΓ€; Taina Autti; Sirkka Lamminranta; Laura Γ
berg; Raili Raininko;
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Article
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1997
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John Wiley and Sons
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English
β 445 KB
π 2 views
A total of 36 patients with Batten disease (juvenile-onset neuronal ceroid lipofuscinosis), homozygous or heterozygous for the major mutation, a 1.02-kb deletion, in the CLN3 gene, were studied to relate their genotype to their clinical phenotype. The onset of visual failure and epilepsy was highly