Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients.
Hanisch
Frank
F
Grimm
Dörte
D
Zierz
Stephan
S
Deschauer
Marcus
M
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
D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases; D003402:Creatine Kinase