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Updated: Jul 16, 2025

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衰退的MECR病原体变异会导致类似于LHON的视神经病变

Claudio Fiorini1, Andrea Degiorgi2, Maria Lucia Cascavilla3

  • 1Programma di Neurogenetica, IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy.

Journal of medical genetics
|September 21, 2023
PubMed
概括

MECR基因变异会导致类似于勒伯遗传性视神经病 (LHON) 的症状. 这项研究揭示了 mitochondrial 脂肪酸合成受损作为一个新的 LHON 机制.

关键词:
遗传学,医学医学神经肌肉疾病 神经肌肉疾病眼科医生 眼科 眼科

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