A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene-Reference-Cited by-同舟云学术

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Published:2013-01-18 Issue:6 Volume:260 Page:1504-1510
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Løseth Sissel,Voermans Nicol C.,Torbergsen Torberg,Lillis Sue,Jonsrud Christoffer,Lindal Sigurd,Kamsteeg Erik-Jan,Lammens Martin,Broman Marcus,Dekomien Gabriele,Maddison Paul,Muntoni Francesco,Sewry Caroline,Radunovic Aleksandar,de Visser Marianne,Straub Volker,van Engelen Baziel,Jungbluth Heinz

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-012-6817-7.pdf

Reference22 articles.

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4. Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN (2010) Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat 31(7):E1544–1550. doi: 10.1002/humu.21278

5. Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, 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 (2012) Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat 33(6):981–988

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