Autosomal recessive ataxias due to POLG mutations SANDO (Q106303)
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Mutation in the POLG1 gene coding for polymerase gamma 1 can cause a variety of heterogenous mitochondrial diseases due to accumulation of deletions of mitochondrial DNA. Sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO) is a disorder that can result from POLG1 mutation.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1147398404 |
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| English | Autosomal recessive ataxias due to POLG mutations SANDO |
Mutation in the POLG1 gene coding for polymerase gamma 1 can cause a variety of heterogenous mitochondrial diseases due to accumulation of deletions of mitochondrial DNA. Sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO) is a disorder that can result from POLG1 mutation. |
