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Figure 1 Mutations in SPG7 in a family with primary lateral sclerosis

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1 Figure 1 Mutations in SPG7 in a family with primary lateral sclerosis
Mutations in SPG7 in a family with primary lateral sclerosis (A) Pedigree with primary lateral sclerosis (PLS). DNA samples from 3 affected individuals (II-1, II-4, and II-7) were used for whole-exome sequencing. Candidate variants were validated, and cosegregation analysis was performed using the DNA samples from all 9 members of this family. The compound missense mutations, L695P and I743T, cosegregated with PLS in this family. (B) Sanger sequencing of SPG7. DNA and messenger RNA samples from lymphoblastoid cells from patients with PLS were Sanger-sequenced; heterozygous mutations are indicated by arrows. (+) = positive; (−) = absence; CF = cerebellar feature; LMN = lower motor neuron signs; NN = neurologically normal; WCB = wheelchair bound. Yi Yang et al. Neurol Genet 2016;2:e60 © 2016 American Academy of Neurology

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