title: Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.
abstract: BACKGROUND
  Patients with anoctamin-5 (ANO5) mutations may present not only with limb-girdle muscular dystrophy type 2L or adult-onset Miyoshi-type myopathy but also with asymptomatic hyperCKemia, exercise intolerance, or rhabdomyolysis.
  
  
  METHODS
  Data from 38 patients in France with ANO5 mutations with and without muscle weakness on first examination were compared.
  
  
  RESULTS
  Twenty patients presented without muscle weakness. Median age at symptom onset or discovery of hyperCKemia was 23 years. Creatine kinase levels ranged from 200 to 40,000 U/L. Electromyography showed a myopathic pattern in 5 patients, and muscle imaging showed involvement of posterior calf muscles in 10 patients. Mild cardiac involvement was observed in 2 patients. Sixteen patients remain free of weakness after a median follow-up period of 5 years.
  
  
  CONCLUSIONS
  Asymptomatic, sometimes mild hyperCKemia or exercise intolerance is a presentation of ANO5-related myopathy and may remain isolated or precede muscle weakness by many years. Muscle Nerve 56: 1096-1100, 2017.
authors.affiliation: APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.
authors.forename: Constantinos
authors.initials: C
authors.lastname: Papadopoulos
authors.affiliation: APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.
authors.forename: Pascal
authors.initials: P
authors.lastname: LaforÊt
authors.affiliation: APHP, Service de Biochimie et Génétique Moléculaire, Cochin Hospital, Paris, France.
authors.forename: Juliette
authors.initials: J
authors.lastname: Nectoux
authors.affiliation: APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.
authors.forename: Tanya
authors.initials: T
authors.lastname: Stojkovic
authors.affiliation: APHP, Pitié-Salpêtrière Hospital, Myology Institute, Paris, France.
authors.forename: Karim
authors.initials: K
authors.lastname: Wahbi
authors.affiliation: Radiological Unit, Teaching Hospital R. Poincaré, University Hospital of Paris, Versailles St Quentin University, Garches, France.
authors.forename: Robert-Yves
authors.initials: RY
authors.lastname: Carlier
authors.affiliation: CEA, I2BM, MIRCen, IdM NMR Laboratory, Paris, France.
authors.forename: Pierre G
authors.initials: PG
authors.lastname: Carlier
authors.affiliation: APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.
authors.forename: Sarah
authors.initials: S
authors.lastname: Leonard-Louis
authors.affiliation: APHP, Service de Biochimie et Génétique Moléculaire, Cochin Hospital, Paris, France.
authors.forename: France
authors.initials: F
authors.lastname: Leturcq
authors.affiliation: Laboratoire de Pathologie Musculaire Risler, Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.
authors.forename: Norma
authors.initials: N
authors.lastname: Romero
authors.affiliation: APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.
authors.forename: Bruno
authors.initials: B
authors.lastname: Eymard
authors.affiliation: APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.
authors.forename: Anthony
authors.initials: A
authors.lastname: Behin
mesh_terms: D000328:Adult; D000075368:Anoctamins / Q000235:genetics*; D058070:Asymptomatic Diseases / Q000453:epidemiology; D015331:Cohort Studies; D003402:Creatine Kinase / Q000097:blood*; D017079:Exercise Tolerance / Q000502:physiology*; D005260:Female; D005500:Follow-Up Studies; D005602:France / Q000453:epidemiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000097:blood / Q000453:epidemiology / Q000235:genetics; D009135:Muscular Diseases / Q000097:blood / Q000453:epidemiology / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D063806:Myalgia / Q000097:blood* / Q000453:epidemiology / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: C547813:ANO5 protein, human; D000075368:Anoctamins; D003402:Creatine Kinase
keywords: Miyoshi myopathy type 3; anoctamin 5; exercise intolerance; hyperCKemia; limb-girdle muscular dystrophy; muscular dystrophy