Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

K. Pelin; P. Hilpela; K. Donner; C. Sewry; P.A. Akkari; Steve Wilton; D. Wattanasirichaigoon; M.L. Bang; T. Centner; F. Hanefeld; S. Odent; M. Fardeau; J.A. Urtizberea; F. Muntoni; V. Dubowitz; A.H. Beggs; Nigel Laing; S. Labeit; A. De La Chapelle; C. Wallgren-Pettersson

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

K. Pelin, P. Hilpela, K. Donner, C. Sewry, P.A. Akkari, Steve Wilton, D. Wattanasirichaigoon, M.L. Bang, T. Centner, F. Hanefeld, S. Odent, M. Fardeau, J.A. Urtizberea, F. Muntoni, V. Dubowitz, A.H. Beggs, Nigel Laing, S. Labeit, A. De La Chapelle, C. Wallgren-Pettersson

Centre for Neuromuscular and Neurological Disorders (Perron Institute)
UWA Centre for Medical Research (affiliated with the Harry Perkins Institute of Medical Research)

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

294 Citations (Scopus)

Original language	English
Pages (from-to)	2305-2310
Journal	Proceedings of the National Academy of Sciences of the United States of America
Volume	96
Issue number	5
Publication status	Published - 1999

Cite this

Pelin, K., Hilpela, P., Donner, K., Sewry, C., Akkari, P. A., Wilton, S., Wattanasirichaigoon, D., Bang, M. L., Centner, T., Hanefeld, F., Odent, S., Fardeau, M., Urtizberea, J. A., Muntoni, F., Dubowitz, V., Beggs, A. H., Laing, N., Labeit, S., De La Chapelle, A., & Wallgren-Pettersson, C. (1999). Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proceedings of the National Academy of Sciences of the United States of America, 96(5), 2305-2310.

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title = "Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy",

author = "K. Pelin and P. Hilpela and K. Donner and C. Sewry and P.A. Akkari and Steve Wilton and D. Wattanasirichaigoon and M.L. Bang and T. Centner and F. Hanefeld and S. Odent and M. Fardeau and J.A. Urtizberea and F. Muntoni and V. Dubowitz and A.H. Beggs and Nigel Laing and S. Labeit and {De La Chapelle}, A. and C. Wallgren-Pettersson",

year = "1999",

language = "English",

volume = "96",

pages = "2305--2310",

journal = "Proceedings of the National Academy of Sciences of the United States of America",

issn = "0027-8424",

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number = "5",

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Pelin, K, Hilpela, P, Donner, K, Sewry, C, Akkari, PA , Wilton, S, Wattanasirichaigoon, D, Bang, ML, Centner, T, Hanefeld, F, Odent, S, Fardeau, M, Urtizberea, JA, Muntoni, F, Dubowitz, V, Beggs, AH, Laing, N, Labeit, S, De La Chapelle, A & Wallgren-Pettersson, C 1999, 'Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy', Proceedings of the National Academy of Sciences of the United States of America, vol. 96, no. 5, pp. 2305-2310.

TY - JOUR

T1 - Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

AU - Pelin, K.

AU - Hilpela, P.

AU - Donner, K.

AU - Sewry, C.

AU - Akkari, P.A.

AU - Wilton, Steve

AU - Wattanasirichaigoon, D.

AU - Bang, M.L.

AU - Centner, T.

AU - Hanefeld, F.

AU - Odent, S.

AU - Fardeau, M.

AU - Urtizberea, J.A.

AU - Muntoni, F.

AU - Dubowitz, V.

AU - Beggs, A.H.

AU - Laing, Nigel

AU - Labeit, S.

AU - De La Chapelle, A.

AU - Wallgren-Pettersson, C.

PY - 1999

Y1 - 1999

M3 - Article

SN - 0027-8424

VL - 96

SP - 2305

EP - 2310

JO - Proceedings of the National Academy of Sciences of the United States of America

JF - Proceedings of the National Academy of Sciences of the United States of America

IS - 5

ER -