Article

Novel mtDNA Imparts the Connective Tissue Disorder of a Tourette Pedigree

2022-02-25

Abstract excerpt

Mitochondrial dysfunction is associated with a range of clinical manifestations including neuropsychiatric and metabolic disorder. Here, we reanalyzed a family with an L-Histidine Decarboxylase (HDC) variant previously linked to Tourette syndrome but with associated connective tissue and metabolic features of unknown etiology. We identified a mitochondrial haplogroup J-defining mutation on the haplogroup H backgro...

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Literature Corpus work: 27fc6b6f-64a3-543f-8405-fc0ce95c2d87
DOI: 10.1101/2022.02.25.481696

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