Article

A novel variant of NEMF in a family with congenital fibrosis of the extraocular muscles: a case report and literature review

2024-09-16

Abstract excerpt

<title>Abstract</title> <p>Background Congenital fibrosis of the extraocular muscles (CFEOM) is one of the congenital cranial dysinnervation disorders (CCDDs) characterized by hypoplastic oculomotor nerves (CN3), congenital ptosis and non-progressive restrictive ophthalmoplegia. The <italic>NEMF</italic> gene encodes a protein that resolves stalled ribosomes during translation. Variants in <italic>NEMF</italic>...

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Literature Corpus work: d8488a59-c1ec-5ba3-8a73-d59a2c6fd150
DOI: 10.21203/rs.3.rs-4913975/v1

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