Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland

The occurrence and genotype–phenotype correlations of the eight most common mutations in the arylsulfatase A (ARSA) gene were studied in 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD). Screening for mutations p.R84Q, p.S96F, c.459+1G>A, p.I179S,...

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Veröffentlicht in:	Clinical genetics 2005-07, Vol.68 (1), p.48-54
Hauptverfasser:	Ługowska, A, Berger, J, Tylki-Szymańska, A, Löschl, B, Molzer, B, Zobel, M, Czartoryska, B
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age of Onset Alleles arylsulfatase A Biological and medical sciences Cerebroside-Sulfatase - deficiency Cerebroside-Sulfatase - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Errors of metabolism Gene Frequency General aspects. Genetic counseling Genotype & phenotype genotype-phenotype correlations Heterozygote Humans Leukocytes Leukodystrophy, Metachromatic - epidemiology Leukodystrophy, Metachromatic - etiology Leukodystrophy, Metachromatic - genetics Lipids (lysosomal enzyme disorders, storage diseases) Medical genetics Medical sciences Metabolic diseases metachromatic leukodystrophy Molecular biology Mutation mutation analysis Neurology Patients Phenotype Poland
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