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Article

A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis

3 Apr 2017

Abstract excerpt

Infantile onset ascending spastic paralysis (IAHSP) is a type of recessively inherited spastic paraplegia. We investigated the clinical and genetic cause of a recessively inherited disorder in two siblings manifesting severe spasticity in the lower limbs which hindered their gait. A novel homozygous nonsense mutation c.1918 C > T (p.Arg640*) was identified after whole-exome sequencing within ALS2 in the DNA of...

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PMID: 28502191
DOI: 10.1080/01677063.2017.1324441

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