A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia (Q44420417)
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scientific article published on May 15, 2003
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia |
scientific article published on May 15, 2003 |
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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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Nicole Monnier
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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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15 May 2003
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