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Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant

C Anandan1, M A Cipriani2, R S Laughlin1

  • 1Department of Neurology, Mayo Clinic, Rochester, MN, USA.

European Journal of Neurology
|December 2, 2017
PubMed

Insights

A novel CACNA1S gene variant caused a muscle disorder with rhabdomyolysis and core-like structures, highlighting the link between CACNA1S and RYR1 related myopathies.

Area of Science:

  • Muscle physiology and genetics
  • Neuromuscular disorders
  • Calcium channel function

Background:

  • CACNA1S encodes Cav 1.1, crucial for muscle excitation-contraction coupling.
  • Mutations in CACNA1S and RYR1 are linked to various myopathies, including malignant hyperthermia and congenital myopathy.
  • RYR1 mutations also cause rhabdomyolysis.
Abstract

Keywords:
CACNA1SCav1.1coreshyperCKemiarhabdomyolysis

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