Erschienen in:
08.04.2022 | Brief Communication
A new mutation in the GNAL gene in familial dystonia presenting with mental symptoms
verfasst von:
Shanghua Fan, Qian Cao, Bin Peng, Bo Yin, Ting Xiao, Liu Sun, Hongjuan Dong
Erschienen in:
Neurological Sciences
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Ausgabe 7/2022
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Abstract
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.