Rhabdomyolysis and Metabolic Myopathy

Gene: AGK

Green List (high evidence)

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: Other

Created: 9 May 2023, 5:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sengers Syndrome (MIM#212350; MONDO:0008922)

Publications

• 22284826

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

Green List (high evidence)

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

• PMID: 22284826