Article
Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E.
Human molecular genetics - 1 Jul 2011
Shen Hailian, Barry Devin M, Dale Jeffrey M, Garcia Virginia B, Calcutt Nigel A, Garcia Michael L
Abstract excerpt
Mutations in neurofilament light (NF-L) have been linked to Charcot-Marie-Tooth disease type 2E (CMT2E) in humans. To provide insight into disease pathogenesis, we developed a novel line of CMT2E mice that constitutively express human NF-L (hNF-L) with a glutamic acid to lysine mutation at position 397 (hNF-L(E397K)). This new line of mice developed signs consistent with CMT2E patients. Disease signs were first...
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