title: Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients.
authors.forename: Frank
authors.initials: F
authors.lastname: Hanisch
authors.forename: Dörte
authors.initials: D
authors.lastname: Grimm
authors.forename: Stephan
authors.initials: S
authors.lastname: Zierz
authors.forename: Marcus
authors.initials: M
authors.lastname: Deschauer
mesh_terms: D000293:Adolescent; D000328:Adult; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D005838:Genotype; D005858:Germany; D006801:Humans; D015994:Incidence; D008659:Metabolic Diseases / Q000453:epidemiology / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000453:epidemiology / Q000235:genetics*; D020125:Mutation, Missense; D010430:Pentosyltransferases; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases; D003402:Creatine Kinase