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A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report
- Source :
- Journal of neuromuscular diseases. 10(1)
- Publication Year :
- 2022
-
Abstract
- 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.
- Subjects :
- Neurology
Neurology (clinical)
Subjects
Details
- ISSN :
- 22143602
- Volume :
- 10
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Journal of neuromuscular diseases
- Accession number :
- edsair.doi.dedup.....678dcc16818ec54383bc2c1de6de834b