Article
In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia.
Neurogenetics - 1 Oct 2015
Ullah Muhammad Ikram, Ahmad Arsalan, Raza Syed Irfan, Amar Ali, Ali Amjad, Bhatti Attya, John Peter, Mohyuddin Aisha, Ahmad Wasim, Hassan Muhammad Jawad
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. It has been found to be associated with frontotemporal lobar degeneration (FTLD). In the present study, we have described homozygosity mapping and gene sequencing in a consanguineous autosomal recessive Pakistani...
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