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MELAS syndrome with m.3243A>G heteroplasmic variant in a 12‑year‑old girl complicated by mitochondrial‑related diabetes: a case report

2026-08-31

Abstract excerpt

<title>Abstract</title> <p> Background: Mitochondrial encephalomyopathy, lactic acidosis, and stroke‑like episodes (MELAS) is a heteroplasmic mitochondrial disorder most frequently caused by the m.3243A>G pathogenic variant in the MT‑TL1 gene¹. Although neurological manifestations are well documented in paediatric populations, multisystem involvement including acute mitochondrial diabetes is an atypical early pr...

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Literature Corpus work
2251aca5-f871-54b9-a636-5756b65284aa
DOI
10.21203/rs.3.rs-10649671/v1
Open publication

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MELAS syndrome with m.3243A&gt;G heteroplasmic variant in a 12‑year‑old girl complicated by mitochondrial‑related diabetes: a case reportDOI 10.21203/rs.3.rs-10649671/v1
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