CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation
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DOI: 10.1080/00207454.2020.1763344
Abstract: Abstract Purpose SPG76 is one of the rare forms of hereditary spastic paraplegia (HSP) which causes by mutations in the CAPN1 gene. The mode of inheritance of SPG76 is autosomal recessive (AR) and so far,… read more here.
Keywords: iranian family; hereditary spastic; pure hsp; hsp ... See more keywords