title: A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy.
abstract: Defects in glycosylations of α-dystroglycan are associated with mutations in several genes, including the fukutin gene (FKTN). Hypoglycosylation of α-dystroglycan results in several forms of muscular dystrophy with variable phenotype. Outside Japan, the prevalence of muscular dystrophies related to aberrations of FKTN is rare, with only eight reported cases of limb girdle phenotype (LGMD2M). We describe the mildest affected patient outside Japan with genetically confirmed LGMD2M and onset of symptoms at age 14. She was brought to medical attention at age 12, not because of muscle weakness, but due to episodes of tachycardia caused by Wolff-Parkinson-White syndrome. On examination, she had rigid spine syndrome, a typical limb girdle dystrophy pattern of muscle weakness, cardiomyopathy, and serum CK levels >2000 IU/L (normal <150 IU/L). A homozygous, novel c.917A>G; p.Y306C mutation in the FKTN gene was found. The case confirms FKTN mutations as a cause of LGMD2M without mental retardation and expands the phenotypic spectrum for LGMD2M to include cardiomyopathy and rigid spine syndrome in the mildest affected non-Japanese patient reported so far.
authors.affiliation: Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark. mariariisager@hotmail.com
authors.forename: M
authors.initials: M
authors.lastname: Riisager
authors.forename: M
authors.initials: M
authors.lastname: Duno
authors.forename: F Juul
authors.initials: FJ
authors.lastname: Hansen
authors.forename: T O
authors.initials: TO
authors.lastname: Krag
authors.forename: C R
authors.initials: CR
authors.lastname: Vissing
authors.forename: J
authors.initials: J
authors.lastname: Vissing
mesh_terms: D017668:Age of Onset; D049030:Dystroglycans / Q000235:genetics / Q000378:metabolism; D005260:Female; D005838:Genotype; D006801:Humans; D007564:Japan; D059609:Mallory Bodies / Q000473:pathology; D008565:Membrane Proteins / Q000235:genetics*; D018908:Muscle Weakness / Q000235:genetics / Q000378:metabolism; D009136:Muscular Dystrophies / Q000150:complications / Q000175:diagnosis; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012600:Scoliosis / Q000150:complications / Q000175:diagnosis; D055815:Young Adult
chemical_list: C113587:FKTN protein, human; D008565:Membrane Proteins; D049030:Dystroglycans