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Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies

✍ Scribed by Haiyan Zhou; Martin Brockington; Heinz Jungbluth; David Monk; Philip Stanier; Caroline A. Sewry; Gudrun E. Moore; Francesco Muntoni


Book ID
117854923
Publisher
American Society of Human Genetics
Year
2006
Tongue
English
Weight
659 KB
Volume
79
Category
Article
ISSN
0002-9297

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Null mutations causing depletion of the
✍ Nicole Monnier; Isabelle Marty; Julien Faure; Claudia Castiglioni; Claude Desnue πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 325 KB

## Communicated by Claude Fe Β΄rec Mutations of the ryanodine receptor cause dominant and recessive forms of congenital myopathies with cores. Quantitative defects of RYR1 have been reported in families presenting with recessive forms of the disease and epigenic regulation has been recently proposed