MICU1におけるバイアレル型変異は,超ピラミッド的な徴候を持つミオパシーを引き起こす: 61人の患者の症例シリーズ,表型スペクトル,および遺伝子型-表型相関

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Updated: Sep 9, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Published on: August 8, 2022

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Pegah Beheshti1, Fahimeh Akbarian1, Emran Esmaeilzadeh2

  • 1Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Clinical genetics
|September 3, 2025
PubMed
まとめ

MICU1遺伝子変異によって引き起こされる稀な遺伝疾患である. この研究では62件の症例が詳細に示され 学習障害や筋痛症などの一般的な症状が示され 潜在的な治療法として MCUの調節が提案されています

キーワード:
MICU1 についてMPXPSエクソームシーケンシングゲノタイプ・フェノタイプ相関ミオパシーとピラミッド外症候群

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