Rhabdomyolysis and Metabolic Myopathy

Gene: AARS2

Green List (high evidence)

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: Other

Created: 9 May 2023, 5:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 8 MIM#614096

Publications

• 21549344
• 25058219

Green List (high evidence)

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

• 30706699
• 27839525
• 21549344
• 25058219

Green List (high evidence)

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 Review

Created: 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

• 30706699
• 27839525