familial amyotrophic lateral sclerosisfrontotemporal dementia and/or amyotrophic lateral sclerosis 7Research
Whole-exome sequencing has identified a novel frameshift and a recurrent nonsense variant in the SPG11 gene linked to familial amyotrophic lateral sclerosis type 5 in two consanguineous families from Pakistan. This discovery enhances understanding of the genetic underpinnings of this rare disease.
whole exome sequencing reveals a novel frameshift and a recurrent nonsense spg11 variant causing rare familial amyotrophic lateral sclerosis type 5 in two consanguineous pakistani families
Original title: “Whole-exome sequencing reveals a novel frameshift and a recurrent nonsense SPG11 variant causing rare familial amyotrophic lateral sclerosis type 5 in two consanguineous Pakistani families.”