Molecular heterogeneity of myophosphorylase deficiency (Mcardle's disease): A genotype-phenotype correlation study

Author:

Martín Miguel A.,Rubio Juan C.,Buchbinder Jenny,Fernández-Hojas Roberto,Del Hoyo Pilar,Teijeira Susana,Gámez Josep,Navarro Carmen,Fernández José M.,Cabello Ana,Campos Yolanda,Cervera Carlos,Culebras José M.,Andreu Antoni L.,Fletterick Robert,Arenas Joaquín

Funder

Fondo de Investigación Sanitaria, Ministerio de Sanidad, Spain

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference33 articles.

1. The family of glycogen phophorylases: structure and function;Newgard;Crit Rev Biochem Mol Biol,1989

2. Phosphorylase: a biological transducer;Browner;Trends Biochem Sci,1992

3. Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase;Burke;Proteins,1997

4. High resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11;Lebo;Science,1984

5. Myopathy due to a defect in muscle glycogen breakdown;McArdle;Clin Sci,1951

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