Charcot-Marie-Tooth disease type 2A (CMT2A) is a form of CMT. While there is no cure for CMT2A, several promising therapeutic targets exist. Learn more here.

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 …

CMT2A is the most common subtype of CMT2 (it accounts for 20% of the cases of axonal CMT) and is caused by defects in the MFN2 gene. The MFN2 gene encodes for mitofusin 2, which is …

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 …

The defect causing CMT2A is found on chromosome 1p36 at the MFN2 gene while CMT2B is characterized by severe ulceration problems and the defect is located on chromosome 3, the …

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 …

Dominant mutations in Mitofusin 2 (MFN2) cause CMT2A2. Mitofusin 2 is localized in the outer membrane of mitochondria and is required for their normal fusion (Chen et al., 2003). This …

2021年10月5日 · Charcot-Marie-Tooth (CMT) disease is a group of disorders in which the motor and/or sensory peripheral nerves are affected, resulting in muscle weakness and atrophy as …

CMT2A is caused by mutations in a gene called MFN2, which produces the protein mitofusin-2. It usually presents with an earlier onset (childhood) and may be more severe than common …

A number sign (#) is used with this entry because autosomal dominant Charcot-Marie-Tooth (CMT) disease type 2A2A (CMT2A2A) is caused by heterozygous mutation in the MFN2 gene …