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In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

Lookup NU author(s): Professor Patrick Chinnery, Professor Volker StraubORCiD, Emerita Professor Katherine Bushby


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Author(s): Shatunov A, Olivé M, Odgerel Z, Stadelmann-Nessler C, Irlbacher K, Landeghem vanF, Bayarsaikhan M, Lee HS, Goudeau B, Chinnery PF, Straub V, Hilton-Jones D, Damian MS, Kaminska A, Vicart P, Bushby K, Dalakas MC, Sambuughin N, Ferrer I, Goebel HH, Goldfarb LG

Publication type: Article

Publication status: Published

Journal: European Journal of Human Genetics

Year: 2009

Volume: 17

Issue: 5

Pages: 656-63

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: European Journal of Human Genetics


DOI: 10.1038/ejhg.2008.226


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Funder referenceFunder name
UK National Commissioning Group
Centro de Investigacion Biomedica en Red de Enfermedades Neurodegenerativas (CIBERNED), Spain
National Institute of Neurological Disorders and Stroke
National Institutes of Health
036825TREAT-NMD EU Network of Excellence
FIS 05-1213