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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Substitution
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Blotting, Western
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Child
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Child, Preschool
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Codon, Terminator
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DNA Mutational Analysis
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Humans
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Male
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Muscle Fibers, Slow-Twitch*
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Muscle, Skeletal / chemistry
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology
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Mutation, Missense
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Myopathies, Nemaline / genetics*
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Myopathies, Nemaline / pathology
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Myopathies, Nemaline / physiopathology
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Point Mutation
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Protein Isoforms / analysis
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Protein Isoforms / genetics
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Sarcomeres / pathology
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Sarcomeres / ultrastructure
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Tropomyosin / analysis
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Tropomyosin / genetics*
Substances
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Codon, Terminator
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Protein Isoforms
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TPM3 protein, human
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Tropomyosin