Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia
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DOI: 10.1038/s10038-018-0523-y
Abstract: Hereditary spastic paraplegias are a group of genetically heterogeneous neurological disorders characterized by progressive weakness and spasticity of lower limbs. We ascertained five families with eight individuals with hereditary spastic paraplegia. Pathogenic variants were identified… read more here.
Keywords: locus allelic; allelic heterogeneity; hereditary spastic; paraplegia ... See more keywords