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

William Wallefeld, Sabine Krause, Kristen J. Nowak, Danielle Dye, Rita Horváth, Zoltán Molnár, M. Szabó, Kazuhiro Hashimoto, Cristina Reina, Jose De Carlos, Jordi Rosell, Ana Cabello, Carmen Navarro, Ichizo Nishino, Hanns Lochmüller, Nigel G. Laing

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

Most nemaline myopathy patients have mutations in the nebulin (NEB) or skeletal muscle α-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.

Original languageEnglish
Pages (from-to)541-547
Number of pages7
JournalNeuromuscular Disorders
Volume16
Issue number9-10
DOIs
Publication statusPublished - Oct 2006

Fingerprint

Nemaline Myopathies
Terminator Codon
Actins
Skeletal Muscle
Mutation
Genes
3' Untranslated Regions
Mutant Proteins
Glutamine
Tryptophan
Tyrosine
Proteins
Western Blotting
Amino Acids
Muscles

Keywords

  • Nemaline myopathy
  • Skeletal muscle alpha actin (ACTA1)
  • Stop codon mutations

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Wallefeld, W., Krause, S., Nowak, K. J., Dye, D., Horváth, R., Molnár, Z., ... Laing, N. G. (2006). Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). Neuromuscular Disorders, 16(9-10), 541-547. https://doi.org/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). / Wallefeld, William; Krause, Sabine; Nowak, Kristen J.; Dye, Danielle; Horváth, Rita; Molnár, Zoltán; Szabó, M.; Hashimoto, Kazuhiro; Reina, Cristina; Carlos, Jose De; Rosell, Jordi; Cabello, Ana; Navarro, Carmen; Nishino, Ichizo; Lochmüller, Hanns; Laing, Nigel G.

In: Neuromuscular Disorders, Vol. 16, No. 9-10, 10.2006, p. 541-547.

Research output: Contribution to journalArticle

Wallefeld, W, Krause, S, Nowak, KJ, Dye, D, Horváth, R, Molnár, Z, Szabó, M, Hashimoto, K, Reina, C, Carlos, JD, Rosell, J, Cabello, A, Navarro, C, Nishino, I, Lochmüller, H & Laing, NG 2006, 'Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)', Neuromuscular Disorders, vol. 16, no. 9-10, pp. 541-547. https://doi.org/10.1016/j.nmd.2006.07.018
Wallefeld, William ; Krause, Sabine ; Nowak, Kristen J. ; Dye, Danielle ; Horváth, Rita ; Molnár, Zoltán ; Szabó, M. ; Hashimoto, Kazuhiro ; Reina, Cristina ; Carlos, Jose De ; Rosell, Jordi ; Cabello, Ana ; Navarro, Carmen ; Nishino, Ichizo ; Lochmüller, Hanns ; Laing, Nigel G. / Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). In: Neuromuscular Disorders. 2006 ; Vol. 16, No. 9-10. pp. 541-547.
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