[HTML][HTML] Detection of MELAS A3243G point mutation in muscle, blood and hair follicles

CM Sue, A Quigley, S Katsabanis, R Kapsa… - Journal of the …, 1998 - Elsevier
Polymerase chain reaction (PCR) based methods for the diagnosis and screening of the
mitochondrial disorders have been well established. A number of tissues are routinely used.
In this study, we compared the detection rate for MELAS A3243G point mutation in muscle,
blood and hair follicles. Ten subjects were studied; mean age was 47 years,(SD 16, range
23–73). All ten subjects had the MELAS A3243G point mutation detected in muscle and hair
follicles, but only five had the abnormality in blood samples. The rate of detection of the point …