title: Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation.
abstract: Limb-girdle muscular dystrophy LGMD2I is caused by mutations in the fukutin-related protein (FKRP) gene. Clinically, LGMD2I exhibits a great phenotypic variability ranging from severe, rapidly progressive weakness and wasting of the limb-girdle muscles to mild disorders. Here, we present three siblings without clinical signs of muscle dystrophy, but with dilated cardiomyopathy. Elevated serum creatine kinase level and partial fatty degeneration of muscles on MRI indicated subclinical involvement of skeletal muscles. The patients were homozygous for the common C826A mutation in the FKRP gene. Although cardiac involvement in patients with clinically typical LGMD2I was previously described, no patient with dilated cardiomyopathy as the only clinical manifestation of the FKRP mutation was reported so far.
authors.affiliation: Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Str. 40, D-06097 Halle (Saale), Germany. sekretariat.neurologie@medizin.uni-halle.de
authors.forename: T
authors.initials: T
authors.lastname: Müller
authors.forename: M
authors.initials: M
authors.lastname: Krasnianski
authors.forename: R
authors.initials: R
authors.lastname: Witthaut
authors.forename: M
authors.initials: M
authors.lastname: Deschauer
authors.forename: S
authors.initials: S
authors.lastname: Zierz
mesh_terms: D000328:Adult; D000409:Alanine / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000097:blood / Q000235:genetics* / Q000473:pathology; D003402:Creatine Kinase / Q000097:blood; D003545:Cysteine / Q000235:genetics*; D004252:DNA Mutational Analysis; D008040:Genetic Linkage; D006801:Humans; D007866:Leg / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D010430:Pentosyltransferases; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D035781:Siblings
chemical_list: D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases; D003402:Creatine Kinase; D003545:Cysteine; D000409:Alanine