Autosomal recessive ataxias due to POLG mutations SANDO (Q106303): Difference between revisions

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Latest 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.

Language	Label	Description	Also known as
default for all languages	ID_1147398404
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.