Study Detail

TitleIdentification of autosomal recessive spastic paraplegia with optic atrophy and neuropathy
Study TypeExome Sequencing
Abstract Objective: To identify the causative gene responsive to autosomal recessive spastic paraplegia (AR-HSP) with optic atrophy and neuropathy. Methods: This study included two patients in a consanguineous family. Two patients underwent neurological examination and DNA analysis. We performed genomewid .. [more]
Description
Center NameJICHI_MED