05 Pedigree
Last updated
Last updated
affecting both male/female
most people don't have disease
middle: both people don't have disease but are carriers
males/females affected
50% offspring have disease
male to male transmission occurs (pass Y), not X linked
one of X becomes inactive
different cells in females will have different lyonization
skewed lyonization: more healthy X become lyonized
confusion from CNS effects
lactic acidosis from no aerobic metabolism