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Recently a missense mutation in the alpha-tropomyosin slow gene (TPM3) was shown to be associated with dominant nemaline myopathy in a large Australian kindred [Laing et al., Nat Genet 1995;9:75-79]. In the course of screening 46 other nemaline myopathy families for TPM3 mutations, a patient who deceased at 21 months with a severe form of the disease was shown to be homozygous for an SSCP polymorphism...
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