Article
Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency.
Muscle & nerve - 1 Oct 2002
Vladutiu Georgirene D, Bennett Michael J, Fisher Nadine M, Smail David, Boriack Richard, Leddy John, Pendergast David R
Abstract excerpt
Carnitine palmitoyltransferase (CPT) II deficiency disorders are clinically very variable. To examine the cause(s) of variable symptoms in first-degree relatives with CPT II deficiency, four sisters with various combinations of mutations and polymorphisms in the CPT2 gene were studied, together with 20 sedentary and 24 trained healthy female subjects. One sister, whose symptoms began at age 7 years, was more...
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