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A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia |
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| Authors: | Monnier Nicole Ferreiro Ana Marty Isabelle Labarre-Vila Annick Mezin Paulette Lunardi Joel |
| Affiliation: | Laboratoire de Biochimie de l'ADN-EA 2943, CHU Grenoble, France. |
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