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A rare heteroplasmic point mutation in the MT-ND5 gene (m.13094T>C; p.Val253Ala) found in a patient with adult onset MELAS syndrome: a case report

2023-03-13

Abstract excerpt

<title>Abstract</title><p><bold>Background:</bold>Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a rare multisystem mitochondrial cytopathy that is highly heterogeneous in severity and clinical presentation mostly caused by diverse mutations in the mitochondrial DNA. Clinical spectrum of MELAS is broadening as atypical presentations and more knowledge are gathering from this synd...

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Literature Corpus work
a0565978-2143-5949-9a03-c36ba5daa331
DOI
10.21203/rs.3.rs-2579238/v1
Open publication

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A rare heteroplasmic point mutation in the MT-ND5 gene (m.13094T&gt;C; p.Val253Ala) found in a patient with adult onset MELAS syndrome: a case reportDOI 10.21203/rs.3.rs-2579238/v1
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