Table 3.
Impaired mitochondrial carrier proteins associated with neuromuscular phenotypes. The amino acids and nucleotides mutations are also reported. For the functions of the listed proteins see Figure 3.
| Gene | Protein Name | Associated Neuromuscular Phenotype(s) | Pathogenic Mutation(s) | Reference(s) |
|---|---|---|---|---|
| SLC25A1 | Citrate carrier (CIC) | Congenital myastenic syndrome | R247Q (c.G740A) G130D (c.G389G) R282H (c.G845G) R210X (c.C628C) V49M (c.G145GA) |
[233,234,235,236] |
| SCL25A3 | Phosphate carrier (PIC) | Cardiac and skeletal myopathy | c.158-9A>G G72E (c.G215A) L200W (c.T599G) G296_S300delinsQIP (c.886-898delins7) |
[237,238,239,240] |
| SLC25A4 | ADP/ATP carrier isoform 1 (AAC1) | Adult onset progressive external ophtalmoplegia, adult onset cardiomyopathy, skeletal myopathy, and childhood onset mild myopathy | A80H (c.G239A) R235G (c.C703G) K33Q (c.A97T) A123D (c.C368A) |
[231,241,242,243,244,245] |
| SLC25A12 | Aspartate/glutamate carrier isoform 1 (AGC1) | Hypotonia, epilepsy, hypomyelination, muscle weakness, and inflammatory myopathy | R252Q (c.G1058A) Q590R (c.A1769G) T444I (c.C1331T) |
[246,247] |
| SLC25A20 | Carnitine/acylcarnitine carrier (CAC) | Muscle weakness, hypotonia, cardiomyopathy, and respiratory distress | Q238R (c.A713G) R275Q (c.G824A) |
[248,249] |
| SLC25A21 | 2-Oxodicarboxylate carrier (ODC1) | Spinal motor atrophy-like disease | K232R (c.A695G) | [250] |
| SLC25A32 | Folate transporter (MFT) | Excercise intolerance, early onset ataxia, myoclonic dysarthria, and muscle weakness | c.-264_31delins14 W142X (c.G425A) R147L (c.G440A) |
[251,252] |
| SLC25A42 | Coenzyme A transporter | Developmental delay, encephalomyopathy, mild and severe motor impairment, and myopathy | N291D (c.A871G) c.380 +2T>A F173_175RFS (c.522_524del) |
[253,254,255] |
| SLC25A46 | SLC25A46 | Type 2 Charcot–Marie–Tooth neuropathy, Leigh syndrome, and progressive myoclonic ataxia | T142I (c.C425T) R246X (c.A736T) L348P (c.T1022C) R340C (c.C1018T) E335D (c.A1005T) L138R (c.T413G) |
[256,257] |