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 journalArticlepeer-review

67 Scopus citations

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
DOIs
StatePublished - Aug 27 2002

ASJC Scopus subject areas

  • Clinical Neurology

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