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Neurology. 1997 Feb;48(2):450-2.

A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies.

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Klinik und Poliklinik für Neurologie, Westfähische Wilhelms-Universität, Münster, Germany.


Peripheral myelin protein PMP22 deficiency is associated with hereditary neuropathy with liability to pressure palsies (HNPP). Most HNPP cases are caused by a 1.5-megabase deletion in chromosome 17p11.2-12, a region that contains the PMP22 gene, whereas point mutations leading to HNPP are extremely rare. We have identified a family with clinical and electrophysiologic features of HNPP,in which all affected members are heterozygous carriers of a single base insertion in codon 94. This mutation is predicted to alter the reading frame and to result in a delayed termination signal. We conclude that the functional consequences of the frameshift are equivalent to those of the PMP22 deletion allele.

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