| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
POLG2 DNA polymerase gamma 2, accessory subunit [KO: K02333]
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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| Disease |
| H00469 | Mitochondrial DNA depletion syndrome |
| H01118 | Progressive external ophthalmoplegia |
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| Reference |
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| Authors |
Lee SJ, Kanwal S, Yoo DH, Park HR, Choi BO, Chung KW |
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| Title |
A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia. |
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| Journal |
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| Reference |
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| Authors |
Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF |
|---|
| Title |
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. |
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| Journal |
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| LinkDB |
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