PMP22

(redirected from CMT1A)
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PMP22

A gene on chromosome 17p12 that encodes an integral membrane protein which is a major component of myelin in the peripheral nervous system, and appears to be involved in growth regulation and myelinisation of the peripheral nervous system.

Molecular pathology
PMP22 mutations are linked to Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome and hereditary neuropathy with liability to pressure palsies.
References in periodicals archive ?
Gait speed was reported to be reduced in older and taller individuals[sup][26] while 10-MWT was significantly correlated with gender, and slightly correlated with age, in CMT1A patients.
sup][29] also reported that dysfunction in CMT1A patients can increase the course of the disease.
PMP22 Gene Dosage Change: Potential Therapy for CMT1A
Approximately 50% of CMT cases are resulted by CMT1A resulted by 1.
Genetic counselors called the UPenn laboratory to discuss the problem that they did not have access to prenatal CMT1A testing.
A contig of the CMT1A duplication was manually constructed using databank searches with terminal sequences of the clones using the BLAST program (30).
Several methods have been used in clinical laboratories for the molecular diagnosis of CMT1A and HNPP (10).
Molecular diagnosis of CMT1A and HNPP involves detection of the DNA duplication or deletion located at the 17p11.
Universities have appeared quite willing to grant such firms exclusive licenses (Athena Diagnostics has secured exclusive licenses from Baylor University for CMT1A, from Duke University for Apo-E genotyping for Alzheimer disease, and from the University of Minnesota for SCA1), which in turn permit this monopolization.
The difference between one and two copies may be relatively easy to detect, but differences between two and three copies, as in the case of CMT1A, can be more challenging and technically difficult.
The techniques used for the molecular diagnosis of CMT1A and HNPP have several limitations.
2-p12 (CMT1A duplication) caused by a misalignment of the CMT1A repeat sequences (CMT1A-REPS) is associated with Charcot-Marie-Tooth disease type 1A (CMT1A).