Distal myopathy with rimmed vacuoles in a case of opercular syndrome

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Functional Characterization of Endogenously Expressed Human RYR1 Variants
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Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

Yoshitaka Toriumi1, Yuichi Takusa, Atsushi Uchiyama

  • 1Department of Pediatrics, Shimane University School of Medicine, Izumo 693-8501, Japan. toriumi@r3.dion.ne.jp

Brain & Development
|March 1, 2006
PubMed

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