A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
Abstract
Members of two seemingly unrelated kindreds of Arab Moslem origin presented with pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis.The authors performed neurological and developmental examinations on the affected individuals. The authors conducted whole genome linkage and haplotype analyses, followed by sequencing of candidate genes; RNA and protein...
Paper Details
Title
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
Published Date
Jun 20, 2012
Journal
Volume
49
Issue
7
Pages
462 - 472
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