Autosomal recessive ataxias due to POLG mutations SANDO (Q106303): Difference between revisions
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Revision as of 13:13, 17 August 2026
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.
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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. |
