Article
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
Human mutation - 1 Dec 2003
Di Fonzo Alessio, Bordoni Andreina, Crimi Marco, Sara Galbiati, Del Bo Roberto, Bresolin Nereo, Comi Giacomo P
Abstract excerpt
The accumulation of multiple mitochondrial DNA (mtDNA) deletions in stable tissues is a distinctive feature of several autosomal disorders, characterized by Progressive External Ophthalmoplegia (PEO), ptosis, and proximal myopathy. At least three nuclear genes are responsible for these disorders: ANT1 and C10orf2 cause autosomal dominant PEO, while mutations of DNA polymerase gammaA (POLG1 or POLG) gene on...
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