However, several studies have revealed a strong inverse correlation between the number of SMN2 copies and SMA severity (8– 11).
We also found a weak association between SE copy number and severity of radiographic damage in RF-negative patients only.
There was no correlation between transgene copy number and severity of behavioral deficits for any of the tests performed at any age (see Additional file 1: Figure S1).
We assessed the exact number of GSTM1 gene copies in relation to development and severity of RA.
Accordingly, it has been observed that the number of residual D4Z4 copies is inversely correlated to the age of onset and severity of the disease [21].
The quantified DNA copy number of both parvoviruses was also consistent with the age and severity of the observed clinical symptoms or lesions.
It is well known that SMN protein level is critical to disease onset and severity, and is determined in part by the SMN2 copy numbers.
Thus, in the absence of wild-type Nav1.6, two copies of the mutant allele in D/D mice are more deleterious than the single copy in D/− mice, demonstrating a direct correlation between dosage of the mutant allele and severity.
110 Since SMN2 copy number differs in the population (ranging from 1 to 5 copies), the severity of the disease inversely correlates with this variable and the relative SMN amount.
Increasing the number of SMN2 copies decreases disease severity and increases life span.
