Article
Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.
Neurology - 12 Sept 2006
Rauschka H, Colsch B, Baumann N, Wevers R, Schmidbauer M, Krammer M, Turpin J-C, Lefevre M, Olivier C, Tardieu S, Krivit W, Moser H, Moser A, Gieselmann V, Zalc B, Cox T, Reuner U, Tylki-Szymanska A, Aboul-Enein F, LeGuern E, Bernheimer H, Berger J
Abstract excerpt
BACKGROUND: P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic leukodystrophy (late-onset MLD), which, in contrast to infantile MLD, show marked phenotypic heterogeneity. OBJECTIVE: To search for genotype-phenotype correlations in late-onset MLD. METHODS: The authors reviewed the clinical course of 22 patients homozygous for mutation P426L vs 20 patients heterozygous for...
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