title: Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.
abstract: BACKGROUND
  Congenital myopathies (CM) are a group of rare inherited muscle disorders characterized by particular histopathological alterations on muscle biopsy. Core-rod myopathy is a CM presenting with cores and rods as distinctive muscle morphological features.
  
  
  RESULTS
  We describe 3 young patients presenting congenital core-rod myopathy with bilateral foot-drop associated with autosomal recessive nebulin gene (NEB) mutations detected by exome sequencing.
  
  
  CONCLUSIONS
  This report illustrates that core-rod congenital myopathy with foot-drop is frequently associated with NEB gene mutations and should be considered in the differential diagnosis of early onset distal myopathies.
authors.affiliation: Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Malfatti
authors.affiliation: Hospital Nacional de Pediatría J.P. Garrahan, Buenos Aires, Argentina.
authors.forename: Soledad
authors.initials: S
authors.lastname: Monges
authors.affiliation: Department of Medical Genetics, Haartman Institute, University of Helsinki, and the Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland.
authors.forename: Vilma-Lotta
authors.initials: VL
authors.lastname: Lehtokari
authors.affiliation: Department of Translational Medecine, IGBMC, INSERM U964, UMR7104, Strasbourg University, Illkirch, France.
authors.forename: Ursula
authors.initials: U
authors.lastname: Schaeffer
authors.affiliation: Department of Translational Medecine, IGBMC, INSERM U964, UMR7104, Strasbourg University, Illkirch, France.
authors.forename: Osorio
authors.initials: O
authors.lastname: Abath Neto
authors.affiliation: Department of Medical Genetics, Haartman Institute, University of Helsinki, and the Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland.
authors.forename: Kirsi
authors.initials: K
authors.lastname: Kiiski
authors.affiliation: Hospital Nacional de Pediatría J.P. Garrahan, Buenos Aires, Argentina.
authors.forename: Fabiana
authors.initials: F
authors.lastname: Lubieniecki
authors.affiliation: Hospital Nacional de Pediatría J.P. Garrahan, Buenos Aires, Argentina.
authors.forename: Ana Lía
authors.initials: AL
authors.lastname: Taratuto
authors.affiliation: The Folkhälsan Institute of Genetics and the Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
authors.forename: Carina
authors.initials: C
authors.lastname: Wallgren-Pettersson
authors.affiliation: Department of Translational Medecine, IGBMC, INSERM U964, UMR7104, Strasbourg University, Illkirch, France.
authors.forename: Jocelyn
authors.initials: J
authors.lastname: Laporte
authors.affiliation: Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address: nb.romero@institut-myologie.org.
authors.forename: Norma B
authors.initials: NB
authors.lastname: Romero
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D059472:Exome; D005260:Female; D020233:Gait Disorders, Neurologic / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult
chemical_list: D009124:Muscle Proteins; C035620:nebulin
keywords: Congenital myopathies; Core-rod myopathies; Distal myopathies; Foot drop; Nebulin