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Updated: Jun 28, 2025

Assessment of Open Probability of the Mitochondrial Permeability Transition Pore in the Setting of Coenzyme Q Excess
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Assessment of Open Probability of the Mitochondrial Permeability Transition Pore in the Setting of Coenzyme Q Excess

Published on: June 1, 2022

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线粒体酸盐载体缺乏症模仿婴儿发病的庞培病

Aynur Küçükcongar Yavaş1,2, Hacer Basan1,2, Serpil Dinçer1,2

  • 1Department of Pediatrics, Ankara Bilkent City Hospital, Ankara, Turkey.

American journal of medical genetics. Part A
|April 24, 2024
PubMed
概括

由SLC25A3基因变异引起的线粒体酸盐载体缺乏症会损害能量生产,导致心脏和肌肉疾病. 这项研究强调了它在最初怀疑是庞培病的患者的诊断.

关键词:
合成腺三酸盐的合成心肌病性心脏病 - 心肌病性心脏病肌氨酸激酶的升高肌肉低血压症 肌肉低血压症

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