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Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

✍ Scribed by Heinz Jungbluth; Mark R. Davis; Clemens Müller; Serena Counsell; Joanna Allsop; Arijit Chattopadhyay; Sonia Messina; Eugenio Mercuri; Nigel G. Laing; Caroline A. Sewry; Graeme Bydder; Francesco Muntoni

Book ID
116792238
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
241 KB
Volume
14
Category
Article
ISSN
0960-8966

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Null mutations causing depletion of the
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores
✍ Nicole Monnier; Isabelle Marty; Julien Faure; Claudia Castiglioni; Claude Desnue 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 325 KB

## Communicated by Claude Fe ´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