Catalog

Autosomal recessive ataxias due to POLG mutations SANDO

No MMS code

Link to WHO Definition

Autosomal recessive ataxias due to POLG mutations SANDO – http://id.who.int/icd/entity/1147398404

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.