title: Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy.
abstract: Mutations in the fukutin-related protein (FKRP) gene are a known cause of autosomal recessive limb-girdle muscular dystrophy. Clinically, patients resemble Becker's muscular dystrophy and generally present in the first two decades of life with a mild, progressive phenotype. Cardiac involvement is variable. Heterozygous carriers are usually clinically unaffected. We report a patient presenting later in life with life-threatening cardiac failure and we describe for the first time clinically manifesting carriers in the family.
authors.affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
authors.forename: Lucia V
authors.initials: LV
authors.lastname: Schottlaender
authors.affiliation: VU University Medical Center, Amsterdam, Department of Neurology, The Netherlands; Department of Neuroinflammation, UCL Institute of Neurology, London, UK.
authors.forename: Axel
authors.initials: A
authors.lastname: Petzold
authors.affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Wood
authors.affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK. Electronic address: h.houlden@ucl.ac.uk.
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
mesh_terms: D000368:Aged; D005260:Female; D006333:Heart Failure / Q000209:etiology*; D006579:Heterozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree
chemical_list: C113587:FKTN protein, human; D008565:Membrane Proteins
keywords: Cardiac failure; Fukutin-related protein; Late onset; Limb-girdle muscular dystrophy; Manifesting carriers; Muscular dystrophy