Article
Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.
Archives of neurology - 1 Jul 2007
Li Jun, Ghandour Khaled, Radovanovic Danijela, Radovanovic Danuijola, Shy Rosemary R, Krajewski Karen M, Shy Michael E, Nicholson Garth A
Abstract excerpt
BACKGROUND: Hereditary neuropathy with liability to pressure palsies (HNPP) is caused by a 1.4-megabase deletion at chromosome 17p11.2, which bears the PMP22 gene and other genes. However, whether other genes besides PMP22 contribute to the phenotype is unknown. Whether any mutation within the coding region of the PMP22 gene ultimately causes HNPP by reducing the amount of peripheral myelin protein 22 (PMP22)...
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