Shanghua Fan, Qian Cao, Bin Peng, Bo Yin, Ting Xiao, Liu Sun, Hongjuan Dong
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 JulGNAL mutations (DYT25) have lately been identified as the firstly proven cause of focal adult-onset dystonia. We report here a new mutation in the GNAL gene in two siblings with dystonia. The new mutation is called NM 001,142,339:c.97C > T. Our research emphasizes the possible effects of new mutation on disease risk and the significance of genetic tests for GNAL mutations in confirming the molecular diagnosis. © 2022. Fondazione Società Italiana di Neurologia.
Shanghua Fan, Qian Cao, Bin Peng, Bo Yin, Ting Xiao, Liu Sun, Hongjuan Dong. A new mutation in the GNAL gene in familial dystonia presenting with mental symptoms. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2022 Jul;43(7):4547-4549
PMID: 35396637
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