A new mutation in the GNAL gene in familial dystonia presenting with mental symptoms.

GNAL 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.

Citation

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

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PMID: 35396637

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