Article
Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation.
Brain : a journal of neurology - 1 Aug 1998
Lenssen P P, Gabreëls-Festen A A, Valentijn L J, Jongen P J, van Beersum S E, van Engelen B G, van Wensen P J, Bolhuis P A, Gabreëls F J, Mariman E C
Abstract excerpt
In six families with hereditary neuropathy with liability to pressure palsies (HNPP) the 17p11.2 deletion was absent, but single strand conformation-analysis and subsequent sequencing demonstrated a heterozygous G-insertion in a stretch of six Gs at nt 276281 of the PMP22 gene, resulting in a frame shift after Gly94. Haplotype comparison of the six families revealed common ancestry. We compared the phenotype of...
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