Condition: Skeletal muscle atrophy


rs267606959 in POLG gene and Skeletal muscle atrophy PMID 20142534 2010 A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.