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In Leber's Disease (LHON), Degeneration of the Optic Nerve Results

Question 39

Multiple Choice

In Leber's disease (LHON) , degeneration of the optic nerve results in blindness due to a defect in NADH dehydrogenase affecting electron transport. If this is due to a mutation in a mitochondrial gene, which combination of the following effects would you expect to see when doing a pedigree analysis of a family with LHON? i. variable expressivity
Ii. incomplete penetrance
Iii. progressive blindness over time
Iv. maternal inheritance
V. diminished muscle mass


A) i and ii only
B) ii and iii only
C) iii and iv only
D) i, ii, iii, and v only
E) i, ii, iii, and iv only

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