Patient | Family | Nucleotide mutations | Protein change(s) | Lactate | MRC activity | Reference |
---|---|---|---|---|---|---|
Pt 1 | Fam. 1 | c.398 T > A; c.514_515insTT | p.Leu133His; p.Tyr173Serfs*9 | n.a. | n.a. | McLaughlin HM et al. 2010 [8] |
Pts 2–8 | Fam. 2 | c.1129G > A; c.1129G > A | p.Asp377Asn | n.a. | n.a. | Santos-Cortez RL et al. 2013 [9] |
Pts 9–14 | Fam. 3–4 | c.517 T > C; c.517 T > C | p.Tyr173His | n.a. | n.a. | Santos-Cortez RL et al. 2013 [9] |
Pt 15 | Fam. 5 | c.1760C > T; c.683C > T | p.Thr587Met; p.Pro228Leu | Elevated (CSF) | n.a. | Lieber et al. 2013 [4] |
Pt 16 | Fam. 6 | c.1396C > T; c.1657G > A | p.Arg466Trp; p.Glu553Lys | Normal (plasma) | n.a. | McMillan et al. 2015 [5] |
Pt 17 | n.a. | n.a. | McMillan et al. 2015 [5] | |||
Pt 18 | Fam. 7 | c.169G > C; deletion at chr16:75672800–75,680,400 | p.Ala57Pro; loss of starting codon | n.a. | n.a. | Joshi et al. 2016 [6] |
Pt 19 | Fam. 8 | c.1037 T > C; c.1427 T > A | p.Ile346Thr; p.Val476Asp | Elevated | cI-IV defects (fibroblast) | Kohda et al. 2016 [11] |
Pt 20 | Fam. 9 | c.1133 T > A; c.1253C > G | p.Leu378His; p.Pro418Arg | Elevated | cI-IV defects (muscle) | Verrigni et al. 2016 [12] |
Pts 21–22 | Fam. 10 | c.1514G > A; c.1597C > T | p.Arg505His; p.Pro533Ser | n.a. | n.a. | Zhou et al. 2017 [10] |
Pt 23 | Fam. 11 | c.1577C > T; c.1466 T > G | p.Ala526Val; p.Phe489Cys | n.a. | n.a. | Murray et al. 2017 [7] |
Pt 24 | n.a. | Normal (muscle) | ||||
Pt 25 | Fam. 12 | c.1514G > A; c.1514G > A | p.Arg505His | Normal (plasma and CSF) | cI, I + III,II + III defects (muscle) | This report (Pt A); Orcesi et al. 2011 [13] |
Pt 26 | Fam. 13 | c.1124A > G; c.381C > G | p.Tyr375Cys; p.Phe127Leu | Elevated (plasma), normal (CSF) | Normal (fibroblasts) | This report (Pt B) |
Pt 27 | Fam. 14 | c.815 T > G; c.1043G > A | p.Phe272Cys; p.Arg348His | Elevated (plasma), normal (CSF) | Normal (fibroblasts) | This report (Pt C) |