Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Olimpia Musumeci"'
Autor:
Salvatore DiMauro, Antonio Toscano, Ali Naini, Olimpia Musumeci, Hasan O. Akman, John Vissing
Publikováno v:
Archives of neurology. 66(3)
Background Phosphoglycerate mutase (PGAM) deficiency (glycogen storage disease type X) has been reported in 12 patients of whom 9 were African American. Objective To describe 2 patients, 1 of Pakistani and 1 of Italian ethnic origin, with typical cli
Autor:
Iñigo Hernández, Antonio L. Andreu, Roberto Fernández, Jose Gamez, Salvatore DiMauro, Alfonso Teijeiro, Olimpia Musumeci, Jose M. Fernandez, Susana Teijeira, Claudio Bruno, Carmen Navarro, Sara Shanske
Publikováno v:
Archives of neurology. 57(2)
Objective To investigate the degree of genetic heterogeneity of myophosphorylase deficiency (McArdle disease) in Spain through molecular studies of 10 new patients. Design The coding sequence of the entire myophosphorylase gene was sequenced in DNA e