Rhabdomyolysis and Metabolic Myopathy

Gene: ATP2A1

Green List (high evidence)

PMID: 32040565 - review of 40 patients with delayed relaxation after repetitive contractions, no atrophy, muscle strength preserved.
- Creatine kinase elevated/normal.
- Age of onset listed as child/1st decade of life for almost all patients.
- Muscle hypertrophy reported in 38% of patients, and muscle weakness in only 9%.
- Three patients were also reported with malignant hyperthermia following administration of general anaesthetics. RYR1 checked, no mutations found. Additional eight patients administered GA with no effects.
- Two patients reported with rhabdomyolysis

Created: 19 May 2022, 11:28 p.m. | Last Modified: 19 May 2022, 11:28 p.m.

Panel Version: 0.14647

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brody myopathy, OMIM # 601003

Publications

• PMID: 32040565

I don't know

Two patients reported with rhabdomyolysis
Sources: Expert list

Created: 15 Jun 2020, 10:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brody myopathy, MIM# 601003

Publications

• 32040565

I don't know

Two patients reported with rhabdomyolysis

Created: 15 Jun 2020, 12:29 a.m. | Last Modified: 15 Jun 2020, 12:29 a.m.

Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brody myopathy 601003

Publications

• PMID: 32040565

Green List (high evidence)

Overview article covering 18 previously published and 22 new patients with a wide range of homozygous and compound het LoF variants. Muscle related presentations varied, but generally shared muscle stiffness with or without excercise. Muscle weakness identified in about 1/3 of patients.

Created: 20 Apr 2020, 4:58 a.m. | Last Modified: 20 Apr 2020, 4:58 a.m.

Panel Version: 0.54

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 32040565