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Article

Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR.

Molecules and cells - 28 Feb 2007

Choi Byung-Ok, Kim Joonki, Lee Kyung Lyong, Yu Jin Seok, Hwang Jung Hee, Chung Ki Wha

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease and hereditary neuropathy with liability to pressure palsies (HNPP) are frequent forms of genetically heterogeneous peripheral neuropathies. Reciprocal unequal crossover between flanking CMT1A-REPs on chromosome 17p11.2-p12 is a major cause of CMT type 1A (CMT1A) and HNPP. The importance of a sensitive and rapid method for identifying the CMT1A duplication and HNPP deletion is...

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PMID: 17464210

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