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Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mu...

Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mu...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_70de7d64f16f4220bf67b876ffea3e0a

Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mutation: a case report and literature review

About this item

Full title

Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mutation: a case report and literature review

Publisher

England: BioMed Central Ltd

Journal title

BMC neurology, 2025-03, Vol.25 (1), p.128-7, Article 128

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Leigh syndrome (LS) is an inherited form of mitochondrial encephalopathy associated with various gene mutations of the oxidative phosphorylation system, typically occurring in infancy or early childhood and resulting in disability or even death. However, few late-onset cases have been reported.
The objective of this case report was to investigat...

Alternative Titles

Full title

Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mutation: a case report and literature review

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_70de7d64f16f4220bf67b876ffea3e0a

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_70de7d64f16f4220bf67b876ffea3e0a

Other Identifiers

ISSN

1471-2377

E-ISSN

1471-2377

DOI

10.1186/s12883-025-04135-2

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