Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.
Eur J Neurol
; 25(2): 417-419, 2018 02.
Article
em En
| MEDLINE
| ID: mdl-29193480
ABSTRACT
BACKGROUND AND PURPOSE:
CACNA1S encodes Cav 1.1, a voltage sensor for muscle excitation-contraction coupling, which activates the ryanodine receptor 1 (RYR1) leading to calcium release from the sarcoplasmic reticulum. CACNA1S mutations cause hypokalemic periodic paralysis, malignant hyperthermia and congenital myopathy. RYR1 mutations result in congenital myopathy, malignant hyperthermia and rhabdomyolysis.METHODS:
The aim was to describe a novel phenotype associated with a CACNA1S variant at a site previously linked to hypokalemic periodic paralysis.RESULTS:
The patient presented with fluctuating asymptomatic creatine kinase elevation after an episode of rhabdomyolysis but has no history of periodic paralysis. His muscle biopsy showed core-like structures occurring mainly in type 2 fibers. He carries a novel Cav 1.1 variant (p.Arg528Leu) affecting a highly conserved amino acid. Different mutations at the same location cause hypokalemic periodic paralysis.CONCLUSION:
This case underscores the similarity between the phenotypes caused by mutations in two functionally linked proteins, RYR1 and Cav 1.1.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Rabdomiólise
/
Canais de Cálcio
/
Creatina Quinase
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Animals
/
Humans
/
Male
Idioma:
En
Revista:
Eur J Neurol
Ano de publicação:
2018
Tipo de documento:
Article