| First Author | Dale JM | Year | 2012 |
| Journal | Genes Brain Behav | Volume | 11 |
| Issue | 3 | Pages | 360-5 |
| PubMed ID | 22288874 | Mgi Jnum | J:198103 |
| Mgi Id | MGI:5495392 | Doi | 10.1111/j.1601-183X.2012.00771.x |
| Citation | Dale JM, et al. (2012) Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2E. Genes Brain Behav 11(3):360-5 |
| abstractText | Charcot-Marie-Tooth disease (CMT) is the most commonly inherited peripheral neuropathy. CMT disease signs include distal limb neuropathy, abnormal gaiting, exacerbation of neuropathy, sensory defects and deafness. We generated a novel line of CMT2E mice expressing an hNF-L(E397K) transgene, which displayed muscle atrophy of the lower limbs without denervation, proximal reduction in large caliber axons and decreased nerve conduction velocity. In this study, we showed that hNF-L(E397K) mice developed abnormal gait of the hind limbs. The identification of severe gaiting defects in combination with previously observed muscle atrophy, reduced axon caliber and decreased nerve conduction velocity suggests that hNF-L(E397K) mice recapitulate many of clinical signs associated with CMT2E. Therefore, hNF-L(E397K) mice provide a context for potential therapeutic intervention. |
