Open AccessA Novel Missense Mutation (W797R) in the Myophosphorylase Gene in Spanish Patients With McArdle Disease
Author(s) -
Roberto Fernández,
Carmen Navarro,
Antoni L. Andreu,
Claudio Bruno,
Sara Shanske,
Josep Gámez,
Susana Teijeira,
I González Hernández,
Alfonso Teijeiro,
José M. Fernández,
Olimpia Musumeci,
S. DiMauro
Publication year - 2000
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneur.57.2.217
Subject(s) - missense mutation , genetics , mutation , exon , biology , coding region , gene , microbiology and biotechnology
To investigate the degree of genetic heterogeneity of myophosphorylase deficiency (McArdle disease) in Spain through molecular studies of 10 new patients.
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