Peripheral nerve myelin protein 22
Peripheral nerve myelin protein 22 (PMP22) is clinically significant in several genetic peripheral neuropathies. These include the several subclasses of Charcot-Marie-Tooth disease (CMT), with loci mapping to chromosome 17 (CMT1A), chromosome 1 (CMT1B) and to another unknown autosome (CMT1C), as well as hereditary neuropathy with sensitivity to pressure palsies (HNPP), an autosomal dominant disorder that results in a recurrent, episodic demyelinating neuropathy.
CMT1A and HNPP are reciprocal duplication/deletion syndromes originating from unequal crossover during germ cell meiosis. HNPP is associated with a 1.5-Mb deletion in chromosome 17p11.2-12 and results from reduced expression of the PMP22 gene. 
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