[Molecular pathology of Charcot-Marie-Tooth disease type 1A: abnormal expression of PMP-22].

Abstract excerpt

In the majority of Charcot-Marie-Tooth disease type 1A (CMT1A) patients, the peripheral myelin protein 22 (PMP-22) gene maps within 1.5 megabase duplication on chromosome 17p11.2-12. The PMP-22 gene dosage is believed to be a major determining factor in the molecular pathology of CMT1A. Median nerve conduction velocities were below 35 m/sec in 17 CMT1A patients examined. Northern blot analysis showed that the...

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