TY -的T1神经影像学教学视频:镜运动一个57岁的女人,< em > KMT2B < / em >有关的肌张力障碍JF -神经学乔-神经病学SP - e224 LP - e224做- 10.1212 / WNL。首页0000000000207144六世- 101 - 2非盟-林Junyu盟:李盟-奇瑞蒋盟惠芳商Y1 - 2023/07/11 UR - //www.ez-admanager.com/content/101/2/e224.abstract N2 - 57岁的首页妇女举行了双边镜运动(MMs)自出生以来,这是明显的手指任务或用具使用。神经系统检查观察轻度睑痉挛。其他神经系统和实验室检查和脑磁共振成像是正常的。她34岁的女儿治疗青少年影响颈椎节段性肌张力障碍,肩膀,和喉部肌肉结合温和的MMs(视频1)。Whole-exome测序检测在大同没有致病变种,NTN1, RAD51或其他已知的罪魁祸首先天性MMs的基因。1 A heterozygous mutation in KMT2B (c. 1439C > T) was identified in the patient and her daughter, which was classified as likely pathogenic according to the American College of Medical Genetics and Genomics guidelines. Although mirror dystonia has been widely reported in focal hand dystonia, bilateral congenital MMs have rarely been reported in dystonia before.2 The congenital MMs of this patient and her daughter might be related to the KMT2B-related dystonia, and the findings suggested a shared pathophysiology of dystonia and MMs. ER -
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