Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.

@article{Sugie1995GeneticAO,
  title={Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.},
  author={Hideo Sugie and Yoko Sugie and Masatoshi Ito and Tokiko Fukuda and Ikuya Nonaka and Yutaka Igarashi},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={1995},
  volume={236 1},
  pages={81-6}
}
We report molecular genetic analysis of 11 Japanese patients with myophosphorylase deficiency (McArdle's disease). Four reported mutations, frequently observed in patients with McArdle's disease, in exons 1, 5, 14 and 17 were investigated. Seven patients out of 11 were homozygous for a single-codon deletion at codon 708/709 in exon 17 and one patient was heterozygous for a single-codon deletion with an unknown mutant allele. In contrast, the predominant mutation reported in US and UK patients… CONTINUE READING

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