Rhabdomyolysis and Metabolic Myopathy
Gene: AARS2
PMID: 21549344
2 Individuals with infantile mitochondrial HCM and lactic acidosis as well as a severe COX deficiency
PMID: 25058219
5 individuals from unrelated families with a mutation in AARS and phenotypic features of cardiomyopathy but only 3 individuals presented with lactic acidosis.
Sources: OtherCreated: 9 May 2023, 5:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 8 MIM#614096
Publications
PMID: 21549344 - a patient with infantile mitochondrial hypertrophic CMP, generalized muscle weakness and normal CK levels, died at 10 months old.
PMID: 25058219 - 5 patients with infantile cardiomyopathy where 3/5 displayed additional muscle features and 2/5 had central neurological features.Created: 3 Jun 2020, 8:12 a.m. | Last Modified: 3 Jun 2020, 8:12 a.m.
Panel Version: 0.107
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 8 MIM#614096
Publications
From a series of 20 cases from the literature and the study, three cases identified with myopathy: increased plasma lactate level, isolated cytochrome c oxidase deficiency (2 cases) and typical RRF (1 case, adult onset) in muscle biopsy. One case had a normal muscle biopsy, all other were not investigated. In another study a case with RRF and myopathy identified (PMID: 27839525)
Sources: Expert ReviewCreated: 25 Feb 2020, 12:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 8 MIM#614096; Leukoencephalopathy, progressive, with ovarian failure MIM#615889
Publications
Gene: aars2 has been classified as Green List (High Evidence).
Gene: aars2 has been classified as Green List (High Evidence).
gene: AARS2 was added gene: AARS2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 21549344; 25058219 Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8 MIM#614096 Review for gene: AARS2 was set to GREEN