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Article

Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort.

Molecular neurobiology - 1 Sept 2022

Dunn P J, Harvey N R, Maksemous N, Smith R A, Sutherland H G, Haupt L M, Griffiths L R

Abstract excerpt

Monogenic forms of cerebral small vessel disease (CSVD) can be caused by both variants in nuclear DNA and mitochondrial DNA (mtDNA). Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is known to have a phenotype similar to Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy (CADASIL), and can be caused by variants in the mitochondrial genome...

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Identifiers

PMID: 35699875
DOI: 10.1007/s12035-022-02914-3
PMCID: PMC9395495

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