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Article

PMP22 expression in dermal nerve myelin from patients with CMT1A

15 May 2009

Abstract excerpt

Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a 1.4 Mb duplication on chromosome 17p11.2, which contains the peripheral myelin protein-22 (PMP22) gene. Increased levels of PMP22 in compact myelin of peripheral nerves have been demonstrated and presumed to cause the phenotype of CMT1A. The objective of the present study was to determine whether an extra copy of the PMP22 gene in CMT1A disrupts the...

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PMID: 19447823
DOI: 10.1093/brain/awp113

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