Connective tissue involvement in an m.10191 T > C carrier with Leigh-like syndrome
Josef Finsterer,
Shaundra M. Newstead
Abstract: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-axial angle, subluxations of various joints, scoliosis, hyperextensibility of skin (stretchy skin), easy tearin… Show more
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