Ataxia due to POLG mutations MIRAS (Q106302)
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Mitochondrial recessive ataxia syndrome (MIRAS) is an autosomal recessive ataxia caused by homozygous or compound heterozygous mutations in the POLG1 gene coding for the mitochondrial DNA polymerase gamma catalytic subunit. Characterized by cerebellar ataxia, dysarthria, involuntary movements, seizures, and psychiatric symptoms.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2067135834 |
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| English | Ataxia due to POLG mutations MIRAS |
Mitochondrial recessive ataxia syndrome (MIRAS) is an autosomal recessive ataxia caused by homozygous or compound heterozygous mutations in the POLG1 gene coding for the mitochondrial DNA polymerase gamma catalytic subunit. Characterized by cerebellar ataxia, dysarthria, involuntary movements, seizures, and psychiatric symptoms. |
Statements
CID11:ID_2067135834
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