Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1
Sign Up to like & getrecommendations! Published in 2019 at "BMJ Case Reports"
DOI: 10.1136/bcr-2018-228782
Abstract: Several genes located within the chromosome 8p11.21 region are associated with movement disorders including SLC20A2 and THAP1. SLC20A2 is one of four genes associated with primary familial brain calcification, a syndrome that also includes movement… read more here.
Keywords: slc20a2 thap1; chromosome 8p11; brain; dystonia associated ... See more keywords
Dysarthria, Ataxia, and Dystonia Associated with COX20 (FAM36A) Gene Mutation: A Case Report of a Turkish Child
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DOI: 10.4103/aian.aian_536_19
Abstract: Annals of Indian Academy of Neurology ¦ Volume 23 ¦ Issue 3 ¦ May-June 2020 399 Sir, Cytochrome c oxidase 20 (COX20) encodes a protein with a role in the assembly and stability of mitochondrial… read more here.
Keywords: neurology; cox20; associated cox20; dysarthria ataxia ... See more keywords