Phenotypic Variability with Two Novel Variants in SPG15: Catching the Lynx by its Ears
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DOI: 10.1002/mdc3.13474
Abstract: Hereditary spastic paraplegia (HSP) syndrome is a group of inherited, progressive, neurodegenerative disorders with clinical, radiological, and genetic heterogeneity. The core clinical feature is lower limb spasticity with variable dorsal column involvement. However, other neurological… read more here.
Keywords: variability two; novel variants; phenotypic variability; two novel ... See more keywords