title: Toward an objective measure of functional disability in dysferlinopathy.
abstract: BACKGROUND
  Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in this study was to assess, clinically and functionally, a cohort of patients with dysferlinopathy, using validated scales.
  
  
  METHODS
  Thirty-one patients with genetically confirmed dysferlinopathy were assessed using the motor function measure (MFM), Modified Rankin Scale (MRS), Muscle Research Council (MRC) scale, serum creatine kinase (CK) assessment, baseline spirometry data, and echocardiographic and electrophysiologic studies.
  
  
  RESULTS
  MFM and MRC scores showed a significant negative correlation with disease duration and inverse correlation with MRS, but not with onset age, clinical phenotype, or CK levels. Percent forced vital capacity (%FVC) correlated negatively with disease duration and onset age. Eight known pathogenic mutations were identified recurrently, 4 of which accounted for 79% of the total.
  
  
  CONCLUSIONS
  The results suggest that MFM is a reliable outcome measure that may be useful for longitudinal follow-up in dysferlinopathy. Recurrent mutations suggest a founder effect in the Chilean population.
authors.affiliation: Unidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santos Dumont 999, 2do. piso, Sector E. Independencia, 8380456, Santiago, Chile.
authors.forename: Lisanne
authors.initials: L
authors.lastname: Woudt
authors.affiliation: Programa de Genética Humana, Instituto de Ciencias Biomédicas (ICBM), Facultad de Medicina, Universidad de Chile, Santiago, Chile.
authors.forename: Gabriella A
authors.initials: GA
authors.lastname: Di Capua
authors.affiliation: Aix Marseille Université, INSERM, Medical Genetics and Functional Genomics, Unité Mixte de Recherche_S 910, Marseille, France.|Assistance Publique - Hôpitaux de Marseille, Département de Génétique Médicale, Hôpital Timone Enfants, Marseille, France.
authors.forename: Martin
authors.initials: M
authors.lastname: Krahn
authors.affiliation: Unidad de Neurología, Departamento de Pediatría, Clínica Las Condes, Santiago, Chile.
authors.forename: Claudia
authors.initials: C
authors.lastname: Castiglioni
authors.affiliation: Unidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santos Dumont 999, 2do. piso, Sector E. Independencia, 8380456, Santiago, Chile.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Hughes
authors.affiliation: Unidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santos Dumont 999, 2do. piso, Sector E. Independencia, 8380456, Santiago, Chile.
authors.forename: Mario
authors.initials: M
authors.lastname: Campero
authors.affiliation: Programa Anatomía y Biología del Desarrollo, Instituto de Ciencias Biomédicas (ICBM), Facultad de Medicina, Universidad de Chile, Santiago, Chile.
authors.forename: Alejandra
authors.initials: A
authors.lastname: Trangulao
authors.affiliation: Programa de Genética Humana, Instituto de Ciencias Biomédicas (ICBM), Facultad de Medicina, Universidad de Chile, Santiago, Chile.
authors.forename: Patricio
authors.initials: P
authors.lastname: González-Hormazábal
authors.affiliation: Programa de Genética Humana, Instituto de Ciencias Biomédicas (ICBM), Facultad de Medicina, Universidad de Chile, Santiago, Chile.
authors.forename: Raúl
authors.initials: R
authors.lastname: Godoy-Herrera
authors.affiliation: Aix Marseille Université, INSERM, Medical Genetics and Functional Genomics, Unité Mixte de Recherche_S 910, Marseille, France.|Assistance Publique - Hôpitaux de Marseille, Département de Génétique Médicale, Hôpital Timone Enfants, Marseille, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Lévy
authors.affiliation: Unité Neuromusculaire, Hôpital Marin de Hendaye, Assistance Publique - Hôpitaux de Paris, Hendaye, France.
authors.forename: Jon Andoni
authors.initials: JA
authors.lastname: Urtizberea
authors.affiliation: Programa de Genética Humana, Instituto de Ciencias Biomédicas (ICBM), Facultad de Medicina, Universidad de Chile, Santiago, Chile.
authors.forename: Lilian
authors.initials: L
authors.lastname: Jara
authors.affiliation: Unidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santos Dumont 999, 2do. piso, Sector E. Independencia, 8380456, Santiago, Chile.|Programa Anatomía y Biología del Desarrollo, Instituto de Ciencias Biomédicas (ICBM), Facultad de Medicina, Universidad de Chile, Santiago, Chile.
authors.forename: Jorge A
authors.initials: JA
authors.lastname: Bevilacqua
mesh_terms: D000293:Adolescent; D000328:Adult; D015331:Cohort Studies; D003402:Creatine Kinase / Q000097:blood; D004185:Disability Evaluation; D006233:Persons with Disabilities; D000073939:Dysferlin; D004576:Electromyography; D019054:Evoked Potentials, Motor / Q000502:physiology; D005121:Extremities / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000097:blood / Q000235:genetics*; D009124:Muscle Proteins / Q000097:blood / Q000235:genetics*; D018482:Muscle, Skeletal / Q000503:physiopathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000097:blood / Q000175:diagnosis* / Q000503:physiopathology*; D009431:Neural Conduction / Q000235:genetics; D012119:Respiration; D013147:Spirometry; D018709:Statistics, Nonparametric; D014797:Vital Capacity / Q000502:physiology; D055815:Young Adult
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D003402:Creatine Kinase
keywords: DYSF; MRC score; dysferlinopathy; motor function measure; recurrent mutations