...PMP22 animal mutants with altered PMP22 gene dosage. A moderate increase in the number of PMP22 genes led to hypomyelina...
...PMP22). Heterozygous PMP22-transgenic rats develop muscle weakness and gait abnormalities as well as reduced nerve condu...
...Pmp22 -/-, Trembler, Trembler-J, and Pmp22-overexpressing mice. This indicates abnormal impulse generation in these dysm...
...PMP22 mutational mechanisms. Duplication of chromosome 17p11.2, causing an overexpression of the PMP22 gene, results in ...
...PMP22). Inheritance is autosomal dominant in pattern. Analysis of nerve biopsies suggests that the disorder is caused by...
...PMP22 gene, are deleted in HNPP. The deletion breakpoints in HNPP map to the same intervals in which the CMT1A duplicati...
...PMP22 expression on Schwann cell growth regulation and on the capacity of genetically modified Schwann cells to myelinat...
...PMP22, P0, MBP) on sural nerve biopsy samples from 12 unrelated CMT patients. The diagnosis of CMT was based on the clin...
...PMP22) gene locus. Transgenic mice carrying extra copies of the wild-type Plp gene provide a valid model of PMD. Variati...
...PMP22 mRNA represent 10 and 5% of normal values in the nerves of heterozygous and homozygous Trembler, respectively. Thi...
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