Abstract
Congenital fibrosis of the extraocular muscles (CFEOM) is one of the congenital cranial dysinnervation disorders (CCDDs). This review discusses the characteristics of the CFEOM phenotypes and the CCDDs, the fibrosis associated with these disorders and the processes, and genes involved in the embryological development of cranial neuromuscular units. In particular, it focuses on the genetics of neural crest identity, axon guidance, and axon construction in relation to the CFEOMs and some consideration of treatment strategies.
摘要
先天性眼外肌纤维化 (CFEOM) 是一种先天性颅神经功能障碍 (CCDDs) 。本文综述了CFEOM与CCDDs的临床表型的特点, 纤维化与与这两种疾病的相关性以及在颅神经肌肉单元的胚胎发育中的相关过程及与其相关的基因。我们特别着重描述了与CFEOMs相关的神经嵴识别的基因、轴突引导和轴突构建及其针对性的治疗策略。
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Vivian, A.J. Congenital fibrosis of the extra-ocular muscles (CFEOM) and the cranial dysinnervation disorders. Eye 34, 251–255 (2020). https://doi.org/10.1038/s41433-019-0700-z
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DOI: https://doi.org/10.1038/s41433-019-0700-z
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