K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

N. Mokbel, B. Ilkovski, M. Kreissl, M. Memo, C.M. Jeffries, M. Marttila, V.L. Lehtokari, E. Lemola, M. Gronholm, N. Yang, D. Menard, P. Marcorelles, A. Echaniz-Laguna, J. Reimann, M. Vainzof, N. Monnier, G. Ravenscroft, E. McNamara, K.J. Nowak, N.G. Laing & 6 others C. Wallgren-Pettersson, J. Trewhella, S. Marston, C.A.C. Ottenheijm, K.N. North, N.F. Clarke

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)494-507
JournalBrain
Volume136
DOIs
Publication statusPublished - 2013

Cite this

Mokbel, N., Ilkovski, B., Kreissl, M., Memo, M., Jeffries, C. M., Marttila, M., ... Clarke, N. F. (2013). K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. Brain, 136, 494-507. https://doi.org/10.1093/brain/aws348
Mokbel, N. ; Ilkovski, B. ; Kreissl, M. ; Memo, M. ; Jeffries, C.M. ; Marttila, M. ; Lehtokari, V.L. ; Lemola, E. ; Gronholm, M. ; Yang, N. ; Menard, D. ; Marcorelles, P. ; Echaniz-Laguna, A. ; Reimann, J. ; Vainzof, M. ; Monnier, N. ; Ravenscroft, G. ; McNamara, E. ; Nowak, K.J. ; Laing, N.G. ; Wallgren-Pettersson, C. ; Trewhella, J. ; Marston, S. ; Ottenheijm, C.A.C. ; North, K.N. ; Clarke, N.F. / K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. In: Brain. 2013 ; Vol. 136. pp. 494-507.
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title = "K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity",
author = "N. Mokbel and B. Ilkovski and M. Kreissl and M. Memo and C.M. Jeffries and M. Marttila and V.L. Lehtokari and E. Lemola and M. Gronholm and N. Yang and D. Menard and P. Marcorelles and A. Echaniz-Laguna and J. Reimann and M. Vainzof and N. Monnier and G. Ravenscroft and E. McNamara and K.J. Nowak and N.G. Laing and C. Wallgren-Pettersson and J. Trewhella and S. Marston and C.A.C. Ottenheijm and K.N. North and N.F. Clarke",
year = "2013",
doi = "10.1093/brain/aws348",
language = "Undefined/Unknown",
volume = "136",
pages = "494--507",
journal = "Brain",
issn = "0006-8950",
publisher = "Oxford University Press",

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Mokbel, N, Ilkovski, B, Kreissl, M, Memo, M, Jeffries, CM, Marttila, M, Lehtokari, VL, Lemola, E, Gronholm, M, Yang, N, Menard, D, Marcorelles, P, Echaniz-Laguna, A, Reimann, J, Vainzof, M, Monnier, N, Ravenscroft, G, McNamara, E, Nowak, KJ, Laing, NG, Wallgren-Pettersson, C, Trewhella, J, Marston, S, Ottenheijm, CAC, North, KN & Clarke, NF 2013, 'K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity' Brain, vol. 136, pp. 494-507. https://doi.org/10.1093/brain/aws348

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. / Mokbel, N.; Ilkovski, B.; Kreissl, M.; Memo, M.; Jeffries, C.M.; Marttila, M.; Lehtokari, V.L.; Lemola, E.; Gronholm, M.; Yang, N.; Menard, D.; Marcorelles, P.; Echaniz-Laguna, A.; Reimann, J.; Vainzof, M.; Monnier, N.; Ravenscroft, G.; McNamara, E.; Nowak, K.J.; Laing, N.G.; Wallgren-Pettersson, C.; Trewhella, J.; Marston, S.; Ottenheijm, C.A.C.; North, K.N.; Clarke, N.F.

In: Brain, Vol. 136, 2013, p. 494-507.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

AU - Mokbel, N.

AU - Ilkovski, B.

AU - Kreissl, M.

AU - Memo, M.

AU - Jeffries, C.M.

AU - Marttila, M.

AU - Lehtokari, V.L.

AU - Lemola, E.

AU - Gronholm, M.

AU - Yang, N.

AU - Menard, D.

AU - Marcorelles, P.

AU - Echaniz-Laguna, A.

AU - Reimann, J.

AU - Vainzof, M.

AU - Monnier, N.

AU - Ravenscroft, G.

AU - McNamara, E.

AU - Nowak, K.J.

AU - Laing, N.G.

AU - Wallgren-Pettersson, C.

AU - Trewhella, J.

AU - Marston, S.

AU - Ottenheijm, C.A.C.

AU - North, K.N.

AU - Clarke, N.F.

PY - 2013

Y1 - 2013

U2 - 10.1093/brain/aws348

DO - 10.1093/brain/aws348

M3 - Article

VL - 136

SP - 494

EP - 507

JO - Brain

JF - Brain

SN - 0006-8950

ER -