Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene.
Bayrakli F, Poyrazoglu HG, Yuksel S, Yakicier C, Erguner B, Sagiroglu MS, Yuceturk B, Ozer B, Doganay S, Tanrikulu B, Seker A, Akbulut F, Ozen A, Per H, Kumandas S, Altuner Torun Y, Bayri Y, Sakar M, Dagcinar A, Ziyal I.
Bayrakli F, et al.
J Hum Genet. 2015 Dec;60(12):763-8. doi: 10.1038/jhg.2015.109. Epub 2015 Oct 1.
J Hum Genet. 2015.
PMID: 26423925
Clinical Trial.
Whole-exome sequencing revealed a homozygous mutation (c.853_871del19) in the gene coding the kinesin light chain 4 protein (KLC4). Meanwhile, the unaffected parents and two siblings were heterozygous and one sibling was homozygous wild type. The 19 bp deletion in exon 6 g …
Whole-exome sequencing revealed a homozygous mutation (c.853_871del19) in the gene coding the kinesin light chain 4 protein (KLC4). M …