Autosomal recessive ataxias due to POLG mutations SANDO (Q106303): Difference between revisions
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A mutação no gene POLG1, que codifica a polimerase gama 1, pode causar uma variedade de doenças mitocondriais heterogêneas devido ao acúmulo de deleções no DNA mitocondrial. Ataxia sensorial, neuropatia, disartria e oftalmoplegia (SANDO) é um transtorno que pode resultar da mutação POLG1. | |||
| description / en | description / en | ||
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. | |||
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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| 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. |
