Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
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| Description | scientific article published in May 2008 |
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author: Julien Fauré Marianne de Visser Sabrina Sacconi Claudia Castiglioni Anneke J van der Kooi Eva Morava |
| Publication date | May 1, 2008 |
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