偶発的なCOL4A5変種と関連した早期呼吸器不全による遺伝性ミオパシー:症例報告

Ursula Abu Nahla1, Rahaf Bleibel1, Mai Arafeh1

  • 1Department of Pediatrics, Hebron University, Hebron, West Bank, State of Palestine, hebron.edu.

Case reports in genetics
|February 13, 2026
PubMed
まとめ

早期呼吸機能不全 (HMERF) による遺伝性筋病症は,TTN遺伝子変異によって引き起こされる珍しい遺伝疾患です. ゲノム検査により,進行的な弱さや呼吸器系の問題のある患者でHMERFが確認されました.

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