Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

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  2. Professor Volker Straub
  3. Professor Katherine Bushby
  4. Dr Michela Guglieri
Author(s)Clarke N, Waddell L, Cooper S, Perry M, Smith R, Kornberg A, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King M, Farrell M, Marty I, Lunardi J, Monnier N, North K
Publication type Article
JournalHuman Mutation
Year2010
Volume31
Issue7
PagesE1544-E1550
ISSN (print)1059-7794
ISSN (electronic)1098-1004
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PublisherJohn Wiley & Sons, Inc.
URLhttp://dx.doi.org/10.1002/humu.21278
DOI10.1002/humu.21278
PubMed id20583297
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