Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia
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DOI: 10.1212/nxg.0000000000000202
Abstract: Autosomal dominant progressive external ophthalmoplegia (adPEO) is a mendelian disorder of mitochondrial DNA (mtDNA) maintenance characterized by restricted eye movements, ptosis, and skeletal muscle–restricted multiple mtDNA deletions.1 Dominantly inherited pathogenic variants of TWNK (GenBank: NM_021830),… read more here.
Keywords: progressive external; opening one; external ophthalmoplegia; one eyes ... See more keywords