EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   2.1.2.9 | Acidosis, Lactic |
32577402 |
Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder. |
causal interaction
therapeutic application
unassigned |
4
3
0 |
| 2.1.2.9 | Ataxia |
24461907 |
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. |
causal interaction
ongoing research
unassigned |
1
2
0 |
| 2.1.2.9 | Ataxia |
28058511 |
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype. |
causal interaction
unassigned |
4
0 |
| 2.1.2.9 | Brain Diseases |
24461907 |
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. |
causal interaction
ongoing research
unassigned |
1
2
0 |
| 2.1.2.9 | Cardiomyopathies |
25911677 |
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase. |
causal interaction
ongoing research
unassigned |
3
4
0 |
| 2.1.2.9 | Cardiomyopathies |
28058511 |
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype. |
causal interaction
unassigned |
4
0 |
| 2.1.2.9 | Demyelinating Diseases |
26060307 |
Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease. |
causal interaction
unassigned |
4
0 |
| 2.1.2.9 | Infections |
32636430 |
MTFMT deficiency correlates with reduced mitochondrial integrity and enhanced host susceptibility to intracellular infection. |
causal interaction
unassigned |
4
0 |
| 2.1.2.9 | Intellectual Disability |
24461907 |
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. |
causal interaction
ongoing research
unassigned |
1
2
0 |
| 2.1.2.9 | Kidney Failure, Chronic |
27393152 |
Challenges managing end-stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya disease. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
