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Unusual ocular and renal phenotype of MELAS syndrome with maculopathy associated with focal and segmental glomerulosclerosis. 

2023-06-09

Abstract excerpt

<h4>Background: </h4> Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited genetic mitochondrial disorder. Case presentation: We present the clinical case of a 28-year-old woman with nephrotic proteinuria and vision loss. Bilateral macular oedema and drusen-like deposits were observed in the funduscopic examination and coincided with the first episod...

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Literature Corpus work
1a93f508-0443-5b5b-8793-8eb618f6535f
DOI
10.21203/rs.3.rs-2984748/v1
Open publication

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Unusual ocular and renal phenotype of MELAS syndrome with maculopathy associated with focal and segmental glomerulosclerosis.DOI 10.21203/rs.3.rs-2984748/v1
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