Mutations of the slow muscle α-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

D. Wattanasirichaigoon, K. J. Swoboda, F. Takada, H. Q. Tong, V. Lip, S. T. Iannaccone, C. Wallgren-Pettersson, N. G. Laing, Allan H. Beggs

Research output: Contribution to journalArticle

66 Citations (Scopus)

Abstract

The α-tropomyosin-3 (TPM3) gene was screened in 40 unrelated patients with nemaline myopathy (NM). A single compound heterozygous patient was identified carrying one mutation that converts the stop codon to a serine and a second splicing mutation that is predicted to prevent inclusion of skeletal muscle exon IX. TPM3 mutations are a rare cause of NM, probably accounting for less than 3% of cases. The severity of cases with TPM3 mutations may vary from severe infantile to late childhood onset, slowly progressive forms.

Original languageEnglish (US)
Pages (from-to)613-617
Number of pages5
JournalNeurology
Volume59
Issue number4
StatePublished - Aug 27 2002

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Nemaline Myopathies
Tropomyosin
Muscles
Mutation
Genes
Terminator Codon
Serine
Exons
Skeletal Muscle

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Wattanasirichaigoon, D., Swoboda, K. J., Takada, F., Tong, H. Q., Lip, V., Iannaccone, S. T., ... Beggs, A. H. (2002). Mutations of the slow muscle α-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. Neurology, 59(4), 613-617.

Mutations of the slow muscle α-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. / Wattanasirichaigoon, D.; Swoboda, K. J.; Takada, F.; Tong, H. Q.; Lip, V.; Iannaccone, S. T.; Wallgren-Pettersson, C.; Laing, N. G.; Beggs, Allan H.

In: Neurology, Vol. 59, No. 4, 27.08.2002, p. 613-617.

Research output: Contribution to journalArticle

Wattanasirichaigoon, D, Swoboda, KJ, Takada, F, Tong, HQ, Lip, V, Iannaccone, ST, Wallgren-Pettersson, C, Laing, NG & Beggs, AH 2002, 'Mutations of the slow muscle α-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy', Neurology, vol. 59, no. 4, pp. 613-617.
Wattanasirichaigoon D, Swoboda KJ, Takada F, Tong HQ, Lip V, Iannaccone ST et al. Mutations of the slow muscle α-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. Neurology. 2002 Aug 27;59(4):613-617.
Wattanasirichaigoon, D. ; Swoboda, K. J. ; Takada, F. ; Tong, H. Q. ; Lip, V. ; Iannaccone, S. T. ; Wallgren-Pettersson, C. ; Laing, N. G. ; Beggs, Allan H. / Mutations of the slow muscle α-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. In: Neurology. 2002 ; Vol. 59, No. 4. pp. 613-617.
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