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Article

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.

Molecular genetics & genomic medicine - 1 Jun 2021

Sturrock Beattie R H, Macnamara Ellen F, McGuire Peter, Kruk Shannon, Yang Ivan, Murphy Jennifer, Tifft Cyndi J, Gordon-Lipkin Eliza

Abstract excerpt

BACKGROUND: Complex II is an essential component of the electron transport chain, linking it with the tricarboxylic acid cycle. Its four subunits are encoded in the nuclear genome, and deleterious variants in these genes, including SDHA (OMIM 600857), are associated with a wide range of symptoms including neurological disease, cardiomyopathy, and neoplasia (paraganglioma-pheochromocytomas (PGL/PCC), and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33960148
DOI: 10.1002/mgg3.1692
PMCID: PMC8222855

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