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| Mitochondrial disorders v4.119 | MIEF2 | Achchuthan Shanmugasundram Phenotypes for gene: MIEF2 were changed from ?Combined oxidative phosphorylation deficiency 49 to ?Combined oxidative phosphorylation deficiency 49, OMIM:619024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.118 | MIEF2 | Achchuthan Shanmugasundram Classified gene: MIEF2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.118 | MIEF2 | Achchuthan Shanmugasundram Gene: mief2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.117 | MIEF2 | Achchuthan Shanmugasundram reviewed gene: MIEF2: Rating: RED; Mode of pathogenicity: None; Publications: 29361167; Phenotypes: ?Combined oxidative phosphorylation deficiency 49, OMIM:619024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.113 | MIEF2 |
Hannah Knight gene: MIEF2 was added gene: MIEF2 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: MIEF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIEF2 were set to 29361167 Phenotypes for gene: MIEF2 were set to ?Combined oxidative phosphorylation deficiency 49 Review for gene: MIEF2 was set to AMBER Added comment: PMID: 29361167 (2018) reported a 15-year-old boy, born of consanguineous Jewish parents, with combined oxidative phosphorylation deficiency-49 and a homozygous nonsense variant in the MIEF2 gene (Q92X). Patient skeletal muscle and fibroblasts showed a combined decrease in mitochondrial respiratory chain enzymes, particularly complexes I and IV, elongated mitochondria with abnormal cristae, decreased mitochondrial fission, and increased fusion events. The cellular phenotype could be rescued by expression of wildtype MIEF2. The findings were consistent with a defect in mitochondrial dynamics Sources: Literature |
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