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Mutations in <jats:italic>NDUFAF5<\/jats:italic> have been previously shown to cause Complex I deficiency leading to mitochondrial respiratory chain impairment. More than 15 individuals affected by variants in <jats:italic>NDUFAF5<\/jats:italic> have been described; however, there is phenotypic heterogeneity within this cohort. Some individuals display features of classical Leigh syndrome with early onset neurodegeneration whereas others live into early adulthood with progressive neurological deficits. Here, we present a clinical report of a 17\u2010year\u2010old African American individual with compound heterozygous mutations in <jats:italic>NDUFAF5<\/jats:italic>. The individual presented with childhood onset bilateral optic atrophy and developed progressive neuromuscular decline with relatively preserved cognition over time.<\/jats:p>","DOI":"10.1002\/ajmg.a.62568","type":"journal-article","created":{"date-parts":[[2021,11,19]],"date-time":"2021-11-19T13:29:06Z","timestamp":1637328546000},"page":"896-899","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in <scp><i>NDUFAF5<\/i><\/scp> and review of the natural history of <scp><i>NDUFAF5<\/i><\/scp>\u2010related disorders"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7455-3850","authenticated-orcid":false,"given":"Nicole R.","family":"Legro","sequence":"first","affiliation":[{"name":"Pennsylvania State University College of Medicine  Hershey Pennsylvania USA"},{"name":"Penn State Health Milton S. 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