2024年4月1日 · Mutations in the gene encoding MFN2 have been identified as associated with Charcot–Marie–Tooth disease type 2A (CMT2A), a neurological disorder characterized by a …

CMT2A is caused by mutations in a gene called MFN2, which produces the protein mitofusin-2. As a type 2 CMT, CMT2A is characterized by dysfunction of axons — the parts of the nerves …

cmt2亚型a（cmt2a）是cmt2最常见的亚型。 它是由位于第1号染色体上的 MFN2 基因 的显性遗传突变引起的 ，编码mitofusin 2，一种参与线粒体（细胞内能量产生室）融合的蛋白质。

2024年3月5日 · Charcot-Marie-Tooth病（CMT）是一种神经系统疾病，症状包括运动神经和感觉神经的损伤，导致肌肉无力和感觉异常。其中，CMT2A是由MFN2基因突变引起的一种亚型。 …

轴突型腓骨肌萎缩症（CMT）是一种遗传异质性疾病，目前已鉴定出 11 种相关基因，其中又以 MFN2 基因突变最为常见（CMT2A）。 近期的 JAMA Neurol 杂志发表最新临床综述，旨在阐 …

CMT Type 2 represents axonal forms of Charcot-Marie-Tooth disease that are dominantly inherited and make up about one-third of all dominant CMT cases. Patients with Type 2 have a …

Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role in mitochondrial fusion. Mutations in MFN2 (most commonly autosomal …

CMT2A is the most prevalent axonal CMT type with a frequency of up to 30% among all CMT2 subtypes and accounts for about 10–15% of all CMT cases [6,188]. CMT2A is caused by …

2021年11月19日 · CMT2 subtype A (CMT2A) is the most common form of CMT2. It is caused by dominantly inherited mutations in the MFN2 gene, located on chromosome 1, which codes for …

CMT2A is caused by dominant mutations in Mitofusin 2 (MFN2). The STAR team has developed two excellent rat models for CMT2A which are being made available to the research …