| Autor: |
Domenico Giannese, Vincenzo Montano, Piervito Lopriore, Claudia Nesti, Annalisa LoGerfo, Maria Adelaide Caligo, Flavio Dal Canto, Gianandrea Pasquinelli, Angelo Giovanni Bonadio, Diego Moriconi, Gabriele Siciliano, Michelangelo Mancuso |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Journal of neuromuscular diseases. 10(1) |
| ISSN: |
2214-3602 |
| Popis: |
Background: Mitochondrial tRNA (MTT) genes are hotspot for mitochondrial DNA mutation and are responsible of half mitochondrial disease. MTT mutations are associated with a broad spectrum of phenotype often with complex multisystem involvement and complex genotype-phenotype correlations. MT-TL1 mutations, among which the m.3243A>G mutation is the most frequent, are associated with myopathy, maternal inherited diabetes and deafness, MELAS, cardiomyopathy, and focal segmental glomerulosclerosis. Case study: Here we report the case of an Italian 49-years old female presenting with encephalomyopathy, chronic proteinuric kidney disease and a new heteroplasmic m.3274_3275delAC MT-TL1 gene mutation. Conclusions: Our case demonstrates a systemic mitochondrial disease caused by the heteroplasmic m.3274_3275delAC MT-TL1 gene mutation, not yet described in the literature. A mitochondrial disease should be suspected in case of complex multisystem phenotypes, including steroid-resistant nephrotic syndrome with multisystemic involvement. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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