Progressive hereditary spastic paraplegia caused by a homozygous KY mutation
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DOI: 10.1038/ejhg.2017.85
Abstract: Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0–24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. Kyphoscolisois was evident in older… read more here.
Keywords: progressive hereditary; hereditary spastic; paraplegia caused; caused homozygous ... See more keywords