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Article

Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency.

European journal of medical genetics - 1 Jan 2021

Naber Myrthe, Hellebrekers Debby, Nievelstein Rutger A J, van Hasselt Peter M, van Jaarsveld Richard H, Cuppen Inge, Oegema Renske

Abstract excerpt

Complex I deficiency is the most common pediatric mitochondrial disease. It can cause a wide range of clinical disorders, including Leigh syndrome. TIMMDC1 encodes an assembly protein of complex I and has been recently associated with early onset mitochondrial disease in three unrelated families. In all three families the same homozygous deep intronic variant was identified leading to inclusion of a new exon...

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PMID: 33278652
DOI: 10.1016/j.ejmg.2020.104120

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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