ミトコンドリアDNA変異の患者における選択的な筋肉MRI変化

Taylor Watson-Fargie1, David G Anderson1, William Stewart2

  • 1Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, UK.

PubMed
まとめ

この研究は 筋肉の弱さや心臓の問題を 抱えた若い女性の 希少なミトコンドリア疾患を詳細に説明しています 遺伝分析では,母性遺伝によるMT-TK遺伝子変異が酸化性リン酸化障害を引き起こすことが明らかになった.

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