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| Mendeliome v1.3208 | MT-TM | Zornitza Stark Marked gene: MT-TM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3208 | MT-TM | Zornitza Stark Gene: mt-tm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3208 | MT-TM | Zornitza Stark Classified gene: MT-TM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3208 | MT-TM | Zornitza Stark Gene: mt-tm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3207 | MT-TM |
Zornitza Stark gene: MT-TM was added gene: MT-TM was added to Mendeliome. Sources: Expert list mtDNA tags were added to gene: MT-TM. Mode of inheritance for gene gene: MT-TM was set to MITOCHONDRIAL Publications for gene: MT-TM were set to 9633749; 24711008; 25468263; 30739820; 11335700; 31488384; 31022467; 29174468 Phenotypes for gene: MT-TM were set to mitochondrial disease (MONDO:0044970), MT-TM-related Review for gene: MT-TM was set to GREEN Added comment: DEFINITIVE by ClinGen. Multiple individuals reported. The condition was first described in a 10-year-old girl with exercise intolerance, myopathy, and short stature with mildly elevated serum lactate. Subsequent publications have shown a consistent phenotype involving a mitochondrial myopathy (typically childhood onset) with elevated lactate. Chronic external progressive ophthalmoplegia (CPEO) is not common but has been reported. Basal ganglia lesions and Leigh syndrome spectrum/mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) overlap have also been reported in one patient. Retinitis pigmentosa has also been reported. Muscle biopsy often shows classic findings of mitochondrial myopathy with COX-negative and ragged red (or blue) fibers. Combined OXPHOS deficiencies in muscle are also observed. Sources: Expert list |
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