Article
Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.
Human molecular genetics - 15 Jan 2006
Stuart Gregory R, Santos Janine H, Strand Micheline K, Van Houten Bennett, Copeland William C
Abstract excerpt
A number of nuclear mutations have been identified in a variety of mitochondrial diseases including progressive external ophthalmoplegia (PEO), Alpers syndrome and other neuromuscular and oxidative phosphorylation defects. More than 50 mutations have been identified in POLG, which encodes the hum...
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