A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan.
Wu MC, Chang YY, Lan MY, Chen YF, Tai CH, Lin YF, Tsai SF, Chen PL, Lin CH.
Wu MC, et al.
J Mol Diagn. 2022 Mar;24(3):262-273. doi: 10.1016/j.jmoldx.2021.12.003. Epub 2022 Jan 15.
J Mol Diagn. 2022.
PMID: 35041927
Free article.
Genetic causes were identified from single cases in TOR1A, TUBB4A, THAP1, ATP1A3, ANO3, GNAL, KMT2B, SLC6A3, ADCY5, CYP27A1, PANK2, C19orf12, and SPG11. The whole-genome sequencing analysis identified a novel intragenic deletion in OPHN1 in a multiplex family with X-linked …
Genetic causes were identified from single cases in TOR1A, TUBB4A, THAP1, ATP1A3, ANO3, GNAL, KMT2B, SLC6A3, ADCY5, CYP27A1, PANK2, C …