Rhabdomyolysis and Metabolic Myopathy
Gene: AGK
Mitochondrial disorder with typical features such as hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis
PMID: 22284826
Predicted LoF variants in 10 individuals from unrelated families
> 5 individuals with confirmed combined respiratory-chain-complex deficiency in muscle tissue as well as lactic acidosis.
Sources: OtherCreated: 9 May 2023, 5:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sengers Syndrome (MIM#212350; MONDO:0008922)
Publications
Comment when marking as ready: Myopathy as part of metabolic condition.Created: 10 Jun 2020, 8:52 p.m. | Last Modified: 10 Jun 2020, 8:52 p.m.
Panel Version: 0.145
OMIM entry for Senger syndrome includes mitochondrial complex deficiencies, lipid storage myopathy and muscle weakness.
PMID: 22284826 - reports 12 patients (9 unrelated) with splice variants and PTCs. All report age of onset of <3.5 years old, majority were in the first 4 months of life. Patients had cardiomypathy, mitochondrial defects, exercise intolerance and lactic acidosis.
Cataracts reported as an additional feature in all patients.Created: 10 Jun 2020, 1:09 a.m. | Last Modified: 10 Jun 2020, 1:09 a.m.
Panel Version: 0.130
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sengers syndrome 212350
Publications
Gene: agk has been classified as Green List (High Evidence).
Gene: agk has been classified as Green List (High Evidence).
gene: AGK was added gene: AGK was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGK were set to 22284826 Phenotypes for gene: AGK were set to Sengers Syndrome (MIM#212350; MONDO:0008922) Review for gene: AGK was set to GREEN