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Titin mutation segregates with hereditary myopathy with early respiratory failure

Lookup NU author(s): Dr Gerald Pfeffer, Dr Hannah Elliott, Dr Helen GriffinORCiD, Dr Rita Barresi, Professor Volker StraubORCiD, Professor Rita HorvathORCiD, Dr Mauro Santibanez Koref, Professor Patrick Chinnery


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Publication metadata

Author(s): Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evilä A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Brain

Year: 2012

Volume: 135

Issue: 6

Pages: 1695-1713

Print publication date: 09/05/2012

ISSN (print): 0006-8950

ISSN (electronic): 1460-2156

Publisher: Oxford University Press


DOI: 10.1093/brain/aws102


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