# Novel MECR Mutation in Childhood-Onset Dystonia, Optic Atrophy, and Basal Ganglia Signal Abnormalities

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/novel-mecr-mutation-in-childhood-onset-dystonia-optic-atrophy-and-basal-ganglia/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Orhan Görükmez,Özlem Görükmez,Cengiz Havalı |
| Citations | 16 |
| DOI | 10.1055/s-0039-1688767 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2947883665 |
| PMID | 31137067 |
| Type | article |
| Year | 2019 |

## Paper authors

- [Orhan Görükmez](https://scholariq.org/researchers/orhan-gorukmez/)

## Paper journal

- [Neuropediatrics](https://scholariq.org/journals/neuropediatrics/)

## Paper primary topic

- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)

## Paper topics

- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.