Ataxia due to POLG mutations MIRAS (Q106302): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A síndrome de ataxia recessiva mitocondrial (MIRAS) é uma ataxia autossômica recessiva causada por mutações homozigóticas ou heterozigóticas compostas no gene POLG1, que codifica a subunidade catalítica gama da DNA polimerase mitocondrial. Caracterizada por ataxia cerebelar, disartria, movimentos involuntários, convulsões e sintomas psiquiátricos. | |||
| description / en | description / en | ||
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. | |||
Revision as of 13:13, 17 August 2026
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 |
||
| 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. |
