Connective tissue involvement in an m.10191 T > C carrier with Leigh-like syndrome
Connective tissue involvement in an m.10191 T > C carrier with Leigh-like syndrome
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Background
Connective tissue involvement in a mitochondrial disorder has been only rarely reported.
Case presentation
A 32-year-old female with Leigh-like syndrome extending into adulthood due to the mtDNA variant m.10191 T > C developed various connective tissue abnormalities, which manifested as hyperlaxity of joints, decreased clivo-axi...
Alternative Titles
Full title
Connective tissue involvement in an m.10191 T > C carrier with Leigh-like syndrome
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_e8e4292fbfec4c509e4e6593b571b85b
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e8e4292fbfec4c509e4e6593b571b85b
Other Identifiers
ISSN
2522-8307
E-ISSN
2522-8307
DOI
10.1186/s42269-023-01157-z
