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

Lookup NU author(s): Professor Volker Straub, Professor Hanns Lochmuller, Dr Anna Sarkozy, Dr Fiona Norwood, Professor Katherine Bushby


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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

Journal: Human Mutation

Year: 2012

Volume: 33

Issue: 6

Pages: 981-988

Print publication date: 04/04/2012

ISSN (print): 1059-7794

ISSN (electronic): 1098-1004

Publisher: John Wiley & Sons, Inc.


DOI: 10.1002/humu.22056


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