CASQ1 related myopathy
Evidence-based neurology checklist on casq1 related myopathy: Genetics This is caused by mutations in the calsequestrin 1 (CASQ1) gene The transmission is autosomal dominant It may be sporadic or familial The median onset age is 65 years Clinical features Other features Muscle biopsy Other…
Genetics
- This is caused by mutations in the calsequestrin 1 (CASQ1) gene
- The transmission is autosomal dominant
- It may be sporadic or familial
- The median onset age is 65 years
Clinical features
Other features
Muscle biopsy
Other investigations
References
- Semplicini C, Bertolin C, Bello L, et al. The clinical spectrum of CASQ1-related myopathy. Neurology 2018; 91:e1629-e1641.
- Tomelleri G, Palmucci L, Tonin P, et al. SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy. Brain 2006; 129:2085-2092.
- Rossi D, Vezzani B, Galli L, et al. A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates. Hum Mutat 2014; 35:1163-1170.
- Di Blasi C, Sansanelli S, Ruggieri A, et al. A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia. J Med Genet 2015; 52:617-626.
- Zhang KY, Zhang GJ, Duan HQ, et al. CASQ1-related myopathy: The first report from China and the literature review. Clin Case Rep 2022; 10:e6689.
