Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion
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DOI: 10.1002/mgg3.2059
Abstract: Kearns‐Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder characterized by onset before 20 years of age and a typical clinical triad: progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduction anomalies. In most cases KSS is… read more here.
Keywords: sayre syndrome; mtdna deletion; kearns sayre; mtdna ... See more keywords