Table 2

Variants identified in 10 individuals with complex I deficiency by exome sequencing

Patient ID number33027332813328433463377964440946072508455902961606
NSV (frequency <0.4% in controls)2523450231393261349299246527323
Genes with ≥2 NSV5885413497231393619
Known disease alleles0001 (NDUFS3)00001 (ACAD9)0
Known complex I subunits and assembly factors2 (NDUFS7/8)01 (NDUFS8)10001 (NDUFB3)10
Mitochondrial localisation1451301 (MTFMT)0131 (MTFMT)
  • Mitochondrial localisation refers to genes coding for known mitochondrial proteins and proteins with a MitoP2-score ≥1.0.

  • Bold indicates gene carrying the causal mutations.

  • NSV, missense, nonsense, stoploss, splice site disruption, insertions, deletions.