Molecular phenotypes of mitochondrial dysfunction in clinically non-manifesting heterozygous PRKN va...
Molecular phenotypes of mitochondrial dysfunction in clinically non-manifesting heterozygous PRKN variant carriers
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
Homozygous or compound heterozygous (biallelic) variants in
PRKN
are causal for PD with highly penetrant symptom expression, while the much more common heterozygous variants may predispose to PD with highly reduced penetrance, through altered mitochondrial function. In the presence of pathogenic heterozygous variants, it is therefore importan...
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Full title
Molecular phenotypes of mitochondrial dysfunction in clinically non-manifesting heterozygous PRKN variant carriers
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TN_cdi_doaj_primary_oai_doaj_org_article_f9b2bc4416894229b0f7654d2b8312bc
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_f9b2bc4416894229b0f7654d2b8312bc
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ISSN
2373-8057
E-ISSN
2373-8057
DOI
10.1038/s41531-023-00499-9
