Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

K  Pelin; Pirta Elina Hotulainen; K  Donner; C  Sewry; P A  Akkari; S D  Wilton; D  Wattanasirichaigoon; M L  Bang; T  Centner; F  Hanefeld; S  Odent; M  Fardeau; J A  Urtizberea; F  Muntoni; V  Dubowitz; A H  Beggs; N G  Laing; S  Labeit; A  de la Chapelle; Angela Carina Wallgren-Pettersson

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

K Pelin, Pirta Elina Hotulainen, K Donner, C Sewry, P A Akkari, S D Wilton, D Wattanasirichaigoon, M L Bang, T Centner, F Hanefeld, S Odent, M Fardeau, J A Urtizberea, F Muntoni, V Dubowitz, A H Beggs, N G Laing, S Labeit, A de la Chapelle, Angela Carina Wallgren-Pettersson

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

Original language	English
Journal	Proceedings of the National Academy of Sciences of the United States of America
Volume	96
Pages (from-to)	2305-2310
Number of pages	6
ISSN	0027-8424
Publication status	Published - 1999
MoE publication type	A1 Journal article-refereed

Fields of Science

ALPHA-ACTININ
BINDING-PROPERTIES
CHROMOSOME 2Q
PROTEIN
MUSCLE
TITIN

Cite this

Pelin, K., Hotulainen, P. E., Donner, K., Sewry, C., Akkari, P. A., Wilton, S. D., 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. G., Labeit, S., de la Chapelle, A., & Wallgren-Pettersson, A. 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, 2305-2310.

@article{42b478b3a36841fbbfcd4d83f350061f,

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

keywords = "ALPHA-ACTININ, BINDING-PROPERTIES, CHROMOSOME 2Q, PROTEIN, MUSCLE, TITIN",

author = "K Pelin and Hotulainen, {Pirta Elina} and K Donner and C Sewry and Akkari, {P A} and Wilton, {S D} and D Wattanasirichaigoon and Bang, {M L} and T Centner and F Hanefeld and S Odent and M Fardeau and Urtizberea, {J A} and F Muntoni and V Dubowitz and Beggs, {A H} and Laing, {N G} and S Labeit and {de la Chapelle}, A and Wallgren-Pettersson, {Angela Carina}",

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",

publisher = "National Academy of Sciences",

}

Pelin, K , Hotulainen, PE , Donner, K, Sewry, C, Akkari, PA, Wilton, SD, Wattanasirichaigoon, D, Bang, ML, Centner, T, Hanefeld, F, Odent, S, Fardeau, M, Urtizberea, JA, Muntoni, F, Dubowitz, V, Beggs, AH, Laing, NG, Labeit, S, de la Chapelle, A & Wallgren-Pettersson, AC 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, pp. 2305-2310.

TY - JOUR

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

AU - Pelin, K

AU - Hotulainen, Pirta Elina

AU - Donner, K

AU - Sewry, C

AU - Akkari, P A

AU - Wilton, S D

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, N G

AU - Labeit, S

AU - de la Chapelle, A

AU - Wallgren-Pettersson, Angela Carina

PY - 1999

Y1 - 1999

KW - ALPHA-ACTININ

KW - BINDING-PROPERTIES

KW - CHROMOSOME 2Q

KW - PROTEIN

KW - MUSCLE

KW - TITIN

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

ER -