Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study.

Abstract

BACKGROUND Mutations of the peripheral myelin protein-22 (PMP22) gene are the most common cause of inherited disease of the peripheral nervous system (PNS), with its deletion resulting in hereditary neuropathy with liability to pressure palsies (HNPP), and its duplication inducing Charcot-Marie-Tooth 1A (CMT1A) disease. Although mainly expressed in the PNS… (More)
DOI: 10.1136/jnnp-2012-303725

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