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Updated: Aug 9, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

H Jungbluth1, C R Müller, B Halliger-Keller

  • 1Dubowitz Neuromuscular Centre, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London, UK.

Neurology
|July 24, 2002
PubMed

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