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Neurology. 2002 Aug 27;59(4):613-7.

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

Author information

  • 1Genetics Division, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Abstract

The alpha-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.

PMID:
12196661
[PubMed - indexed for MEDLINE]
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