A nonsense mutation in the myophosphorylase gene in a Japanese family withMcArdle's disease

We identified a new mutation in the myophosphorylase gene in a Japanese fam ily with McArdle's disease. This point mutation results in the replacement of a tryptophan at amino acid position 361 with a stop codon, the third non sense mutation in this disorder. Our findings further expand the already wi de spectrum of genetic Lesions associated with McArdle's disease, and estab lish that molecular genetic heterogeneity is also present in the Japanese p opulation. (C) 1999 Elsevier Science B.V. All rights reserved.