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[Clinical case of MELAS syndrom].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2022

Goldobin V V, Klocheva E G, Afanasyeva M Yu, Tertyshnaya N M

Abstract excerpt

Clinical case of mitochondrial encephalomyopathy manifested with lactic acidosis and stroke-like episodes was presented. The patient diagnosis was performed in childhood, based on clinical manifestation, and was confirmed with molecular genetic test (mutation m.3243A>G in gene MT-TL1 was revealed). Appropriate patient management required united efforts of different medical specialists with simultaneous...

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PMID: 35758962
DOI: 10.17116/jnevro2022122061152

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