(Q44420417)
Statements
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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 (English)
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Isabelle Marty
Nicole Monnier
1 reference
Ana Ferreiro
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Annick Labarre-Vila
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Paulette Mezin
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Joel Lunardi
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1 May 2003
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12
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10
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1171-1178
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Identifiers
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1 reference