JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
REVIEW
Add like
Add dislike
Add to saved papers

Overview of Charcot-Marie-Tooth disease type 1A.

Type 1A CMT disease is most commonly due to a segmental duplication on chromosome 17p11.2, leading to the presence of an extra copy of the gene for peripheral myelin protein 22 (PMP22). Inheritance is autosomal dominant in pattern. Analysis of nerve biopsies suggests that the disorder is caused by increased gene dosage. Occasionally CMTIA results from point mutations in the PMP22 gene. Onset of symptoms in cases with a duplication is usually in the first decade of life; slowing of nerve conduction velocity is evident from the age of 2 years. Active demyelination is restricted to childhood. It leads to hypertrophic "onion bulb" changes and is accompanied and followed by progressive axonal loss. The commonest clinical phenotype is the CMT syndrome with distal muscle wasting and weakness, tendon areflexia, usually mild sensory loss, and foot deformity. Other phenotypes include the Roussy-Lévy syndrome, in which postural tremor and ataxia are associated, and cases with severe distal sensory loss and acrodystrophic changes.

Full text links

We have located links that may give you full text access.
Can't access the paper?
Try logging in through your university/institutional subscription. For a smoother one-click institutional access experience, please use our mobile app.

For the best experience, use the Read mobile app

Group 7SearchHeart failure treatmentPapersTopicsCollectionsEffects of Sodium-Glucose Cotransporter 2 Inhibitors for the Treatment of Patients With Heart Failure Importance: Only 1 class of glucose-lowering agents-sodium-glucose cotransporter 2 (SGLT2) inhibitors-has been reported to decrease the risk of cardiovascular events primarily by reducingSeptember 1, 2017: JAMA CardiologyAssociations of albuminuria in patients with chronic heart failure: findings in the ALiskiren Observation of heart Failure Treatment study.CONCLUSIONS: Increased UACR is common in patients with heart failure, including non-diabetics. Urinary albumin creatininineJul, 2011: European Journal of Heart FailureRandomized Controlled TrialEffects of Liraglutide on Clinical Stability Among Patients With Advanced Heart Failure and Reduced Ejection Fraction: A Randomized Clinical Trial.Review

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

Read by QxMD is copyright © 2021 QxMD Software Inc. All rights reserved. By using this service, you agree to our terms of use and privacy policy.

You can now claim free CME credits for this literature searchClaim now

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app