Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course.

Huntington disease is caused by a dominantly transmitted CAG repeat expansion mutation that is believed to confer a toxic gain of function on the mutant protein. Huntington disease patients with two mutant alleles are very rare. In other poly(CAG) diseases such as the dominant ataxias, inheritance of two mutant alleles causes a phenotype more severe than in heterozygotes. In this multicentre st...

Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype.

http://jmg.bmj.com/content/41/2/e17.full.html Updated information and services can be found at: These include: References http://jmg.bmj.com/content/41/2/e17.full.html#related-urls Article cited in: http://jmg.bmj.com/content/41/2/e17.full.html#ref-list-1 This article cites 18 articles, 4 of which can be accessed free at: service Email alerting the top right corner of the online article. Receiv...

Root Cause and Error Analysis

Error is an inevitable part of life and cannot be completely eliminated, but it can be minimized. A root cause analysis is a technique for understanding the systematic error causes that is involved beyond a person or people to implement an errors and including field and environmental causes of errors when occur in this situation too. An important factor of an error occurrence is a root cause (c...

Does Higher Inflation Lead to More Inflation Uncertainty? (The Case Of Iran)

Does Atraucan cause more postdural puncture backache?

BACKGROUND/AIM Postdural puncture backache (PDPB) is the most frequent complaint after spinal anesthesia. In the literature its importance is generally overshadowed by postdural puncture headache. We studied two different kinds of spinal anesthesia needles to compare their technical handling capacities and incidences of PDPB. MATERIALS AND METHODS Data of 256 pregnant female patients undergoi...