Rhabdomyolysis and Metabolic Myopathy
Gene: ATP2A1
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 rhabdomyolysisCreated: 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
Two patients reported with rhabdomyolysis
Sources: Expert listCreated: 15 Jun 2020, 10:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brody myopathy, MIM# 601003
Publications
Two patients reported with rhabdomyolysisCreated: 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
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
Gene: atp2a1 has been classified as Green List (High Evidence).
Gene: atp2a1 has been classified as Amber List (Moderate Evidence).
Gene: atp2a1 has been classified as Amber List (Moderate Evidence).
gene: ATP2A1 was added gene: ATP2A1 was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP2A1 were set to 32040565 Phenotypes for gene: ATP2A1 were set to Brody myopathy, MIM# 601003 Review for gene: ATP2A1 was set to AMBER