Identification and analyses of exonic and copy number variants in spastic paraplegia
Anum Shafique,
Ayesha Nadeem,
Faiza Aslam
et al.
Abstract:Hereditary spastic paraplegias are a diverse group of degenerative disorders that are clinically categorized as isolated; with involvement of lower limb spasticity, or symptomatic, where spastic paraplegia is complicated by further neurological features. We sought to identify the underlying genetic causes of these disorders in the participating patients. Three consanguineous families with multiple affected members were identified by visiting special schools in the Punjab Province. DNA was extracted from blood … Show more
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