Table 2.
Impaired mitochondrial enzymes associated with neuromuscular phenotypes. Their amino acids and nucleotide mutations are also reported. For the functions of the listed proteins see Figure 2.
| Gene | Protein Name | Associated Neuromuscular Phenotypes | Pathogenic Mutations | Reference(s) |
|---|---|---|---|---|
| OPA1 | Optic atrophy 1 | Excercise intollerance, ataxia, and ophtalmoplegia | R455M (c.G1334A) S545R (c.C1635G) Q297X (c.C889T) A357T (c.G1069A) |
[199,200] |
| MFN2 | Mitofusin 2 | Type 2 Charcot–Marie–Tooth neuropathy, motor neuropathy, muscle weakness, and atrophy | R95W (c.C280T) R280H (c.G839A) |
[202,203] |
| ACO2 | Aconitase | Truncal hypotonia, muscle atrophy, and seizures | R607C (c.1819T9 P712l (c.C2135T) |
[205] |
| MDH2 | Malate dehydrogenase 2 | Muscle weakness, muscle atrophy, and severe hypotonia | P133L (c.C398T) P207L (c.C620T) G199Afs*10 (c596delG) |
[206,207] |
| CPTII | Carnitine palmitoyl transferase II | Severe infantile hepatocardiomuscular disease and myopathy | S113L (c.S113L) P227L (c.C1196T) K414TfsX7 (c.1238_1239delAG) K642Tfsx6 (c.1926_1935DEL) |
[208,209,210] |
| SCAD | Short-chain acylCoA dehydrogenase | Hypotonia, seizures, progressive myopathy, cardiomyopathy, and progressive external ophtalmoplegia | G209S (c.G625A) R171W (c.C511T) |
[211] |
| VLCAD | Very-long-chain acylCoA dehydrogenase | Early onset cardiac and skeletal myopathy | F418L (c.T1372C) G401A (c.G1322A) E454K (c.G1600A) R575Q (c.G1844A) |
[211] |
| ETFDH | Electron transfer flavoprotein dehydrogenase | Myopathy, dysphagia and respiratory failure, and multiple acyl-CoA dehydrogenase deficiency | A187V (c.C560T) D511N (c.G1531A) |
[212,213] |
| ECHS1 | Enoyl-CoA hydratase | Early onset Leigh-like syndrome, dystonia, and ataxia syndrome | A158D (c.C473A) Q159R (c.A476G) V82L (c.G244T) |
[214] |