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Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies (vol 33, pg 981, 2012)

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


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Publication metadata

Author(s): Sarkozy A; Straub V; Lochmuller H; Norwood F; Bushby K; Klein A; Lillis S; Munteanu I; Scoto M; Zhou HY; Quinlivan R; Manzur AY; Roper H; Jeannet PY; Rakowicz W; Jones DH; Jensen UB; Wraige E; Trump N; Schara U; Kingston H; Damian M; Kirschner J; Longman C; Roberts M; Auer-Grumbach M; Hughes I; Sewry C; Robb S; Abbs S; Jungbluth H; Muntoni F

Publication type: Note

Publication status: Published

Journal: Human Mutation

Year: 2012

Volume: 33

Issue: 8

Pages: 1310-1310

Print publication date: 13/07/2012

ISSN (print): 1059-7794

ISSN (electronic): 1098-1004



DOI: 10.1002/humu.22136