Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15‐year experience

In conclusion, the common HNPP deletion accounts for ~ 50% and PMP22 micromutations for ~ 2% of cases in a large consecutive cohort of patients with suspected HNPP. The mutational and phenotypic spectrum of HNPP is similar in the Greek population compared to other populations. Proposed electrophysiological diagnostic criteria perform satisfactorily in every day clinical practice.
Source: Journal of the Peripheral Nervous System - Category: Neurology Authors: Tags: RESEARCH REPORT Source Type: research