Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia
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DOI: 10.1016/j.jns.2020.116669
Abstract: BAKGROUND Hereditary Spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of degenerative disorders characterized by progressive spasticity and weakness of the lower limbs. This study aimed to identify causative gene variants in two… read more here.
Keywords: rare novel; novel cyp2u1; family; zfyve26 ... See more keywords