哪些基因突变会导致Kmt2b相关肌张力障碍(Kmt2b-Related Dystonia) Kmt2b相关肌张力障碍是由KMT2B基因的突变引起的。KMT2B基因编码一个称为MLL4的蛋白质,该蛋白质在神经系统发育和功能中起重要作用。以下是一些已知的KMT2B基因突变与Kmt2b相关肌张力障碍的关联: 1. 复制数变异(Copy Number Variations,CNVs):一些患者...
### 分类 KMT2B相关肌张力障碍可以根据临床表现和发病机制进行分类,主要包括以下几种类型: 1. **扭转性肌张力障碍(Torsion Dystonia)**:这种类型的肌张力障碍表现为身体某些部位的扭转和不自主的运动,常见于四肢和躯干。 2. **局部肌张力障碍(Focal Dystonia)**:影响特定的肌肉群,常见于手部(如作家痉挛)或面部...
[2] Meyer E, Carss KJ, Rankin J, et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017 Feb;49(2):223-237. [3] Abela L, Kurian MA. KMT2B-related dystonia. In: GeneReviews®...
Burke-Fahn-Mars肌张力障碍评分量表(Burke-Fahn-Marsdendystonia rating scale,BFMDRS)示运动评分75.5分,功能障碍评分23分。患儿2岁时在当地医院诊断"脑瘫"予康复训练无效,4岁起间断服用美多芭、巴氯芬、氯硝西泮口服治疗均无效,仍进行性加重,并出现肌张力障碍持续状态表现。患儿7岁时行全外显子基因检测(北京迈...
Many patients with KMT2B dystonia may have sustained clinical improvement with deep brain stimulation.Design/Methods: Case Report, Trio whole genome sequencingResults: Our patient presented to the emergency department with multiple complaints having not seen a physician for 2 years due to financial ...
[2] Meyer E, Carss KJ, Rankin J, et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017 Feb;49(2):223-237. [3] Abela L, Kurian MA. KMT2B-related dystonia. In: GeneReviews® [Internet]. Seattle: University of Washington; 20...
Manju Kurian and colleagues report heterozygous variants in KMT2B in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance. Their findings highlight a clinically recognizable form
Mutations in MLL2 cause complex early-onset dystonia, and overexpression of MLL2 is associated with gastrointestinal diffuse large B-cell lymphoma (13,14). Miller, T. et al. (2001) Proc Natl Acad Sci U S A 98, 12902-7. Shilatifard, A. (2008) Curr Opin Cell Biol 20, ...
Burke-Fahn-Mars肌张力障碍评分量表(Burke-Fahn-Marsdendystonia rating scale,BFMDRS)示运动评分75.5分,功能障碍评分23分。患儿2岁时在当地医院诊断"脑瘫"予康复训练无效,4岁起间断服用美多芭、巴氯芬、氯硝西泮口服治疗均无效,仍进行性加重,并出现肌张力障碍持续状态表现。患儿7岁时行全外显子基因检测(北京迈...
Purpose of ReviewTo summarize the molecular and clinical findings of KMT2B-related dystonia (DYT-KMT2B), a newly identified genetic dystonia syndrome.Recent FindingsSince first described in 2016, 66 different KMT2B-affecting variants, encompassing a set of frameshift, nonsense, splice-site, missense...