A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia
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DOI: 10.3389/fgene.2021.812640
Abstract: The SPG7 gene encodes the paraplegin protein, an inner mitochondrial membrane—localized protease. It was initially linked to pure and complicated hereditary spastic paraplegia with cerebellar atrophy, and now represents a frequent cause of undiagnosed cerebellar… read more here.
Keywords: family; variant; spg7 gene; spastic ataxia ... See more keywords