Clinical and Genetic Findings in a Large Cohort of Patients with Ryanodine Receptor 1 Gene-Associated Myopathies

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  2. Professor Volker Straub
  3. Professor Hanns Lochmuller
  4. Dr Anna Sarkozy
  5. Dr Fiona Norwood
  6. Professor Katherine Bushby
Author(s)Klein A, Lillis S, Munteanu I, Scoto M, Zhou HY, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F
Publication type Article
JournalHuman Mutation
Year2012
Volume33
Issue6
Pages981-988
ISSN (print)1059-7794
ISSN (electronic)1098-1004
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PublisherJohn Wiley & Sons, Inc.
URLhttp://dx.doi.org/10.1002/humu.22056
DOI10.1002/humu.22056
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