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Updated: Jan 11, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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在由SLC6A8变体引起的X结合的肌载体缺乏症中,显着的U波没有QT延长

Antoine Delinière1, Chloé Mulatier2, David Cheillan3

  • 1National Reference Center for Inherited Arrhythmia Syndromes of Lyon (CERA), Cardiac Electrophysiology Unit, Louis Pradel Hospital, Institut de Cardiologie, Hospices Civils de Lyon, Bron, France; Université Claude Bernard Lyon 1, MeLiS, CNRS UMR 5284, Institut NeuroMyoGène, Lyon, France.

Heart rhythm
|November 16, 2025
PubMed
概括

男性的肌酸载体缺陷 (CTD) 会导致明显的心电图变化,包括突出的U波和双相T波,但不是QTc延长或心肌病. 需要进一步的研究来了解这种再极化模式的长期预后.

关键词:
肌酸载体缺乏症 肌酸载体缺乏症神经发育障碍 神经发育障碍在 QT 间隔.SLC6A8 致病变体的病原性变体一个U波,一个U波.

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