Acid alpha-glucosidase deficiency: Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype

Hiroyuki Tsunoda, Toshio Ohshima, Jun Tohyama, Masayuki Sasaki, Norio Sakuragawa*, Frank Martiniuk

*この研究の対応する著者

研究成果: Article査読

10 被引用数 (Scopus)

抄録

We report a missense mutation in an adult Japanese patient with acid alpha-glucosidase (GAA) deficiency. A TC to GT transition at nucleotides 1585-1586, was identified. This transition resulted in an amino acid substitution of Ser-529 to Val (S529V) in exon 11. We also have demonstrated that the S529V mutation abolishes the catalytic activity of the enzyme. Our data suggest that this mutation is the cause of the clinical manifestation known as adult-onset GAA deficiency. The missense mutation described here is a new mutation, and the first identified in Japanese patients with GAA deficiency.

本文言語English
ページ(範囲)496-499
ページ数4
ジャーナルHuman Genetics
97
4
DOI
出版ステータスPublished - 1996 4
外部発表はい

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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