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

Article

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

Rinsho shinkeigaku = Clinical neurology - 1 Dec 1995

Yoshikawa H, Nishimura T, Yanagihara T

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 ne...

Topics

Animals
Charcot-Marie-Tooth Disease
Gene Dosage
Humans
Median Nerve
Mutation
Myelin Proteins
Neural Conduction

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.