Skip to main content
. 1998 Nov;153(5):1501–1510. doi: 10.1016/S0002-9440(10)65738-0

Table 2.

Heteroplasmic Polymorphisms in DCM Patients

Base change Gene RE +/− RE digestion* Mutant % DCM Controls
Mutant Wild Type Blood Heart
T4336C tRNA GlnC AvaII + 153bp+200bp 353 bp 50 72 1 /85 0 /111
T10034C tRNA Gly AluI + 110bp+117bp 227 bp 75 90 1 /85 0 /111
A10398G-Thr Ala ND3 DdeI+  37bp+38bp+160bp 37 bp+ 198 bp 58 75 1 /85 0 /111

RE +/−, restriction enzyme gain or loss.

* Fragment size in mutant and wild-type DNA after restriction enzyme (RE) digestion.

Described as a polymorphism in LHON patients and in normal controls. 41

Reported as neutral polymorphisms in encephalomyopathy patients and in normal controls. 42