title: Respiratory and cardiac function in japanese patients with dysferlinopathy.
abstract: BACKGROUND
  We retrospectively reviewed respiratory and cardiac function in patients with dysferlinopathy, including 2 autopsy cases with respiratory dysfunction.
  
  
  METHODS
  Subjects included 48 patients who underwent respiratory evaluation (n = 47), electrocardiography (n = 46), and echocardiography (n = 23).
  
  
  RESULTS
  Of the 47 patients, 10 had reduced percent forced vital capacity (%FVC), and 4 required non-invasive positive pressure ventilation. %FVC was significantly correlated with disease duration, and mean %FVC was significantly lower in non-ambulatory patients, as well as in those aged ≥65 years with normal creatine kinase levels. On electrocardiography, QRS complex duration was prolonged in 19 patients, although no significant association with age, disease duration, or respiratory function was found. Echocardiography indicated no left ventricular dysfunction in any patient. Histopathology of autopsied cases revealed mild cardiomyopathy and moderate diaphragm involvement.
  
  
  CONCLUSIONS
  Patients with dysferlinopathy may develop severe respiratory failure and latent cardiac dysfunction. Both respiratory and cardiac function should be monitored diligently.
authors.affiliation: Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.|Department of Education Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan.|Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Atsuko
authors.initials: A
authors.lastname: Nishikawa
authors.affiliation: Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Madoka
authors.initials: M
authors.lastname: Mori-Yoshimura
authors.affiliation: Department of Cardiology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Segawa
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.|Department of Pathophysiology, Tokyo Medical University, Tokyo, Japan.
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.affiliation: Department of Neurology and Division of Clinical Research, Sendai Nishitaga National Hospital, Miyagi, Japan.
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Takahashi
authors.affiliation: Department of Laboratory Medicine, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Saito
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.affiliation: Aix-Marseille University, UMR 910 INSERM, Faculté de Médecine Timone, Marseille, France.|APHM, Hôpital d'Enfants de la Timone, Département de Génétique Médicale et de Biologie Cellulaire, Marseille, France.
authors.forename: Martin
authors.initials: M
authors.lastname: Krahn
authors.affiliation: Aix-Marseille University, UMR 910 INSERM, Faculté de Médecine Timone, Marseille, France.|APHM, Hôpital d'Enfants de la Timone, Département de Génétique Médicale et de Biologie Cellulaire, Marseille, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Levy
authors.affiliation: Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Shimizu
authors.affiliation: Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Mitsui
authors.affiliation: Department of Promoting Clinical Trial and Translational Medicine, Translational Medical Center, National Center of Neurology and Psychiatry, Ogawahigashi, Tokyo, Japan.
authors.forename: En
authors.initials: E
authors.lastname: Kimura
authors.affiliation: Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.|Department of Neurology, International University of Health and Welfare Mita Hospital, Tokyo, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Goto
authors.affiliation: Department of Promoting Clinical Trial and Translational Medicine, Translational Medical Center, National Center of Neurology and Psychiatry, Ogawahigashi, Tokyo, Japan.
authors.forename: Naohiro
authors.initials: N
authors.lastname: Yonemoto
authors.affiliation: Department of Neurology, Tohoku University School of Medicine, Miyagi, Japan.
authors.forename: Masashi
authors.initials: M
authors.lastname: Aoki
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.|Department of Promoting Clinical Trial and Translational Medicine, Translational Medical Center, National Center of Neurology and Psychiatry, Ogawahigashi, Tokyo, Japan.
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.affiliation: Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Oya
authors.affiliation: Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Miho
authors.initials: M
authors.lastname: Murata
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D001344:Autopsy; D003402:Creatine Kinase / Q000097:blood; D000073939:Dysferlin; D004562:Electrocardiography; D005260:Female; D006331:Heart Diseases / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D007564:Japan; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics; D049288:Muscular Dystrophies, Limb-Girdle / Q000097:blood / Q000150:complications* / Q000235:genetics; D009154:Mutation / Q000235:genetics; D012120:Respiration Disorders / Q000175:diagnosis / Q000209:etiology*; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed; D014797:Vital Capacity; D055815:Young Adult
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D003402:Creatine Kinase
keywords: LGMD2B; Miyoshi myopathy; autopsy; cardiac function; dysferlinopathy; respiratory function