In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype

C. Gineste; J.M. de Winter; C. Kohl; C.C. Witt; B. Giannesini; K. Brohm; Y. Le Fur; N. Gretz; C. Vilmen; E. Pecchi; M. Jubeau; P.J. Cozzone; G.J.M. Stienen; H. Granzier; S. Labeit; C.A.C. Ottenheijm; D. Bendahan; J. Gondin

doi:https://doi.org/10.1016/j.nmd.2012.12.011

In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype

C. Gineste, J.M. de Winter, C. Kohl, C.C. Witt, B. Giannesini, K. Brohm, Y. Le Fur, N. Gretz, C. Vilmen, E. Pecchi, M. Jubeau, P.J. Cozzone, G.J.M. Stienen, H. Granzier, S. Labeit, C.A.C. Ottenheijm, D. Bendahan, J. Gondin

Physiology (VUmc)

Research output: Contribution to journal › Article › Academic › peer-review

21 Citations (Scopus)

Abstract

Nemaline myopathy is the most common congenital skeletal muscle disease, and mutations in the nebulin gene account for 50% of all cases. Recent studies suggest that the disease severity might be related to the nebulin expression levels. Considering that mutations in the nebulin gene are typically recessive, one would expect that a single functional nebulin allele would maintain nebulin protein expression which would result in preserved skeletal muscle function. We investigated skeletal muscle function of heterozygous nebulin knock-out (i.e., nebulin

Original language	English
Pages (from-to)	357-369
Journal	Neuromuscular disorders
Volume	23
Issue number	4
DOIs	https://doi.org/10.1016/j.nmd.2012.12.011
Publication status	Published - 2013

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Cite this

Gineste, C., de Winter, J. M., Kohl, C., Witt, C. C., Giannesini, B., Brohm, K., Le Fur, Y., Gretz, N., Vilmen, C., Pecchi, E., Jubeau, M., Cozzone, P. J., Stienen, G. J. M., Granzier, H., Labeit, S., Ottenheijm, C. A. C., Bendahan, D., & Gondin, J. (2013). In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype. Neuromuscular disorders, 23(4), 357-369. https://doi.org/10.1016/j.nmd.2012.12.011

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title = "In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype",

abstract = "Nemaline myopathy is the most common congenital skeletal muscle disease, and mutations in the nebulin gene account for 50% of all cases. Recent studies suggest that the disease severity might be related to the nebulin expression levels. Considering that mutations in the nebulin gene are typically recessive, one would expect that a single functional nebulin allele would maintain nebulin protein expression which would result in preserved skeletal muscle function. We investigated skeletal muscle function of heterozygous nebulin knock-out (i.e., nebulin",

author = "C. Gineste and {de Winter}, J.M. and C. Kohl and C.C. Witt and B. Giannesini and K. Brohm and {Le Fur}, Y. and N. Gretz and C. Vilmen and E. Pecchi and M. Jubeau and P.J. Cozzone and G.J.M. Stienen and H. Granzier and S. Labeit and C.A.C. Ottenheijm and D. Bendahan and J. Gondin",

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Gineste, C, de Winter, JM, Kohl, C, Witt, CC, Giannesini, B, Brohm, K, Le Fur, Y, Gretz, N, Vilmen, C, Pecchi, E, Jubeau, M, Cozzone, PJ, Stienen, GJM, Granzier, H, Labeit, S, Ottenheijm, CAC, Bendahan, D & Gondin, J 2013, 'In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype', Neuromuscular disorders, vol. 23, no. 4, pp. 357-369. https://doi.org/10.1016/j.nmd.2012.12.011

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T1 - In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype

AU - Gineste, C.

AU - de Winter, J.M.

AU - Kohl, C.

AU - Witt, C.C.

AU - Giannesini, B.

AU - Brohm, K.

AU - Le Fur, Y.

AU - Gretz, N.

AU - Vilmen, C.

AU - Pecchi, E.

AU - Jubeau, M.

AU - Cozzone, P.J.

AU - Stienen, G.J.M.

AU - Granzier, H.

AU - Labeit, S.

AU - Ottenheijm, C.A.C.

AU - Bendahan, D.

AU - Gondin, J.

PY - 2013

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AB - Nemaline myopathy is the most common congenital skeletal muscle disease, and mutations in the nebulin gene account for 50% of all cases. Recent studies suggest that the disease severity might be related to the nebulin expression levels. Considering that mutations in the nebulin gene are typically recessive, one would expect that a single functional nebulin allele would maintain nebulin protein expression which would result in preserved skeletal muscle function. We investigated skeletal muscle function of heterozygous nebulin knock-out (i.e., nebulin

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DO - https://doi.org/10.1016/j.nmd.2012.12.011

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VL - 23

SP - 357

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