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Class 2 mutation, which accounts for the majority of clinical mutations in FH, creates a membrane protein that is synthesized but not transported to the Golgi efficiently and, thus, is degraded

4 Asupan asam askorbat yang mencukupi dan pemberian vitamin B 12 dapat meningkatkan biosintesis karnitin endogen, sedangkan suplementasi kolin nampaknya menurunkan sintesis karnitin

This results in extended exercise capacity before the onset of fatigue.

Neul and colleagues provided revised diagnostic criteria for Rett syndrome and emphasized that it remains a clinical diagnosis because not all patients with Rett syndrome have MECP2 mutations and not all patients with MECP2 mutations have Rett syndrome (188)