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Late-Onset Metachromatic Leukodystrophy: Genotype Strongly Influences Phenotype Neurol 67:859-863, Rauschka,H.,et al, 2006 See this aricle in Pubmed Article Abstract The characteristic clinical differences between homozygous P426L and compound heterozygous I179S patients establish a distinct genotype-phenotype correlation in late-onset metachromatic leukodystrophy.

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(click to filter results - removes previous filter) ataxia,cerebellar behavioral disorder gene mutation genetic neurologic disorders metachromatic leukodystrophy metachromatic leukodystrophy,adult onset paraparesis paraparesis,spastic schizophrenia

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