Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)

W. Wallefeld; S. Krause; Kristen Nowak; D.E. Dye; R. Horvath; Z. Molnar; M. Szabo; K. Hashimoto; C. Reina; J.D. Carlos; J. Rosell; A. Cabello; C. Navarro; I. Nishino; H. Lochmuller; Nigel Laing

doi:10.1016/j.nmd.2006.07.018

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)

W. Wallefeld, S. Krause, Kristen Nowak, D.E. Dye, R. Horvath, Z. Molnar, M. Szabo, K. Hashimoto, C. Reina, J.D. Carlos, J. Rosell, A. Cabello, C. Navarro, I. Nishino, H. Lochmuller, Nigel Laing

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32 Citations (Scopus)

Abstract

Most nemaline myopathy patients have mutations in the nebulin (NEB) or skeletal muscle alpha-actin (ACTA1) genes. Here we report for the first time three patients with severe nemaline myopathy and mutations of the ACTA1 stop codon: TAG > TAT (tyrosine), TAG > CAG (glutamine) and TAG > TGG (tryptophan). All three mutations will cause inclusion of an additional 47 amino acids, translated from the 3' UTR of the gene, into the mature actin protein. Western blotting of one patient's muscle demonstrated the presence of the larger protein, while expression of one of the other mutant proteins fused to EGFP in C2C12 cells demonstrated the formation of rod bodies. (C) 2006 Elsevier B.V. All rights reserved.

Original language	English
Pages (from-to)	541-547
Journal	Neuromuscular Disorders
Volume	16
DOIs	https://doi.org/10.1016/j.nmd.2006.07.018
Publication status	Published - 2006

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Wallefeld, W., Krause, S., Nowak, K., Dye, D. E., Horvath, R., Molnar, Z., Szabo, M., Hashimoto, K., Reina, C., Carlos, J. D., Rosell, J., Cabello, A., Navarro, C., Nishino, I., Lochmuller, H., & Laing, N. (2006). Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). Neuromuscular Disorders, 16, 541-547. https://doi.org/10.1016/j.nmd.2006.07.018

@article{2f90e60061e8421d992dfc425da7a28c,

title = "Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)",

abstract = "Most nemaline myopathy patients have mutations in the nebulin (NEB) or skeletal muscle alpha-actin (ACTA1) genes. Here we report for the first time three patients with severe nemaline myopathy and mutations of the ACTA1 stop codon: TAG > TAT (tyrosine), TAG > CAG (glutamine) and TAG > TGG (tryptophan). All three mutations will cause inclusion of an additional 47 amino acids, translated from the 3' UTR of the gene, into the mature actin protein. Western blotting of one patient's muscle demonstrated the presence of the larger protein, while expression of one of the other mutant proteins fused to EGFP in C2C12 cells demonstrated the formation of rod bodies. (C) 2006 Elsevier B.V. All rights reserved.",

author = "W. Wallefeld and S. Krause and Kristen Nowak and D.E. Dye and R. Horvath and Z. Molnar and M. Szabo and K. Hashimoto and C. Reina and J.D. Carlos and J. Rosell and A. Cabello and C. Navarro and I. Nishino and H. Lochmuller and Nigel Laing",

year = "2006",

doi = "10.1016/j.nmd.2006.07.018",

language = "English",

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journal = "Neuromuscular Disorders",

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Wallefeld, W, Krause, S, Nowak, K, Dye, DE, Horvath, R, Molnar, Z, Szabo, M, Hashimoto, K, Reina, C, Carlos, JD, Rosell, J, Cabello, A, Navarro, C, Nishino, I, Lochmuller, H & Laing, N 2006, 'Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)', Neuromuscular Disorders, vol. 16, pp. 541-547. https://doi.org/10.1016/j.nmd.2006.07.018

TY - JOUR

T1 - Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)

AU - Wallefeld, W.

AU - Krause, S.

AU - Nowak, Kristen

AU - Dye, D.E.

AU - Horvath, R.

AU - Molnar, Z.

AU - Szabo, M.

AU - Hashimoto, K.

AU - Reina, C.

AU - Carlos, J.D.

AU - Rosell, J.

AU - Cabello, A.

AU - Navarro, C.

AU - Nishino, I.

AU - Lochmuller, H.

AU - Laing, Nigel

PY - 2006

Y1 - 2006

N2 - Most nemaline myopathy patients have mutations in the nebulin (NEB) or skeletal muscle alpha-actin (ACTA1) genes. Here we report for the first time three patients with severe nemaline myopathy and mutations of the ACTA1 stop codon: TAG > TAT (tyrosine), TAG > CAG (glutamine) and TAG > TGG (tryptophan). All three mutations will cause inclusion of an additional 47 amino acids, translated from the 3' UTR of the gene, into the mature actin protein. Western blotting of one patient's muscle demonstrated the presence of the larger protein, while expression of one of the other mutant proteins fused to EGFP in C2C12 cells demonstrated the formation of rod bodies. (C) 2006 Elsevier B.V. All rights reserved.

AB - Most nemaline myopathy patients have mutations in the nebulin (NEB) or skeletal muscle alpha-actin (ACTA1) genes. Here we report for the first time three patients with severe nemaline myopathy and mutations of the ACTA1 stop codon: TAG > TAT (tyrosine), TAG > CAG (glutamine) and TAG > TGG (tryptophan). All three mutations will cause inclusion of an additional 47 amino acids, translated from the 3' UTR of the gene, into the mature actin protein. Western blotting of one patient's muscle demonstrated the presence of the larger protein, while expression of one of the other mutant proteins fused to EGFP in C2C12 cells demonstrated the formation of rod bodies. (C) 2006 Elsevier B.V. All rights reserved.

UR - https://www.scopus.com/pages/publications/33748699638

U2 - 10.1016/j.nmd.2006.07.018

DO - 10.1016/j.nmd.2006.07.018

M3 - Article

SN - 0960-8966

VL - 16

SP - 541

EP - 547

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

ER -

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)

Abstract

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