Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.

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.

journal_name

Eur J Neurol

authors

Anandan C,Cipriani MA,Laughlin RS,Niu Z,Milone M

doi

10.1111/ene.13528

subject

Has Abstract

pub_date

2018-02-01 00:00:00

pages

417-419

issue

2

eissn

1351-5101

issn

1468-1331

journal_volume

25

pub_type

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