<it>POLG1 </it>p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype
<p>Abstract</p> <p>Background</p> <p>The c.2447G>A (p.R722H) mutation in the gene <it>POLG1 </it>of the catalytic subunit of human mitochondrial polymerase gamma has been previously found in a few occasions but its pathogenicity has remained uncertain. We...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2010-05-01
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| Series: | BMC Neurology |
| Online Access: | http://www.biomedcentral.com/1471-2377/10/29 |