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

From the Genetics Division (Drs. Wattanasirichaigoon, Swoboda, Takada, Tong, and Beggs, and V. Lip), Children’s Hospital, Harvard Medical School, Boston, MA; Department of Neurology (Dr. Iannaccone), Texas Scottish Rite Hospital, Dallas; Department of Medical Genetics (Dr. Wallgren-Pettersson), University of Helsinki, and the Folkhälsan Department of Medical Genetics, Helsinki, Finland; and the Centre for Neuromuscular and Neurological Disorders (Dr. Laing), University of Western Australia, Australian Neuromuscular Research Institute, QEII Medical Centre, Nedlands, Australia.

Address correspondence and reprint requests to Dr. Alan H. Beggs, Genetics Division, Children’s Hospital, 300 Longwood Ave., Boston, MA 02115; e-mail: beggs{at}rascal.med.harvard.edu

The -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.

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