|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
|
|
0.800 |
CausalMutation
|
CLINVAR |
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
|
29440775 |
2018 |
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
|
|
0.800 |
CausalMutation
|
CLINVAR |
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
|
27839525 |
2017 |
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
|
|
0.800 |
CausalMutation
|
CLINVAR |
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
|
25705216 |
2015 |
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
|
|
0.800 |
CausalMutation
|
CLINVAR |
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
|
25058219 |
2014 |
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
|
|
0.800 |
CausalMutation
|
CLINVAR |
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
|
22277967 |
2012 |
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
|
|
0.800 |
CausalMutation
|
CLINVAR |
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
|
21549344 |
2011 |
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
|
25058219 |
2014 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel (ovario) leukodystrophy related to AARS2 mutations.
|
24808023 |
2014 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
|
25058219 |
2014 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel (ovario) leukodystrophy related to AARS2 mutations.
|
24808023 |
2014 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
|
22277967 |
2012 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
|
22277967 |
2012 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
|
21549344 |
2011 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
|
21549344 |
2011 |
|
Pericardial effusion
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Pleural effusion disorder
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Congenital hypoplasia of lung
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Polyhydramnios
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Hydrops Fetalis, Non-Immune
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Mixed respiratory and metabolic acidosis
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Infantile cardiomyopathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
To date, all described patients with AARS2-related fatal infantile cardiomyopathy are united by either a homozygous or compound heterozygous c.1774C>T (p.Arg592Trp) missense founder mutation that is absent in patients with other AARS2-related phenotypes.
|
30285085 |
2019 |
|
Cardiomyopathies
|
|
0.010 |
GeneticVariation
|
BEFREE |
Finally, we investigated the effects of the severe infantile-onset cardiomyopathy-associated R592W mutation of hmtAlaRS on the canonical enzymatic activities of hmtAlaRS.
|
30952159 |
2019 |