title: Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy.
abstract: BACKGROUND
  Cylindrical spirals are characteristic muscular inclusions consisting of spiraling double-laminated membranes. They are found in heterogeneous clinical conditions.
  
  
  METHODS
  We obtained muscle biopsies from 2 young sisters with severe congenital hypotonia, muscle weakness, and epileptic encephalopathy, and identified cylindrical spirals.
  
  
  RESULTS
  We found an association between congenital encephalomyopathy and cylindrical spirals.
  
  
  CONCLUSIONS
  In this morphological and ultrastructural study, we speculate on the origin of these peculiar structures.
authors.affiliation: UPMC Université Paris 06, Institut National de la Santé et de la Recherche Médicale UMR 974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, Sorbonne Universités, 47 Boulevard de l'Hôpital, 75013, Paris, France.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Malfatti
authors.affiliation: Department of Neurology-Neuromuscular Disorders Centers, Buenos Aires Italian Hospital, Buenos Aires, Argentina.
authors.forename: Marcelo
authors.initials: M
authors.lastname: Chaves
authors.affiliation: Centre de Référence Caribéen des Maladies neuromusculaire et Neurologiques Rares, CHU de Martinique, Martinique.
authors.forename: Remi
authors.initials: R
authors.lastname: Bellance
authors.affiliation: UPMC Université Paris 06, Institut National de la Santé et de la Recherche Médicale UMR 974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, Sorbonne Universités, 47 Boulevard de l'Hôpital, 75013, Paris, France.
authors.forename: Mai Thao
authors.initials: MT
authors.lastname: Viou
authors.affiliation: Centre de Référence Caribéen des Maladies neuromusculaire et Neurologiques Rares, CHU de Martinique, Martinique.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Sarrazin
authors.affiliation: UPMC Université Paris 06, Institut National de la Santé et de la Recherche Médicale UMR 974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, Sorbonne Universités, 47 Boulevard de l'Hôpital, 75013, Paris, France.
authors.forename: Michel
authors.initials: M
authors.lastname: Fardeau
authors.affiliation: UPMC Université Paris 06, Institut National de la Santé et de la Recherche Médicale UMR 974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, Sorbonne Universités, 47 Boulevard de l'Hôpital, 75013, Paris, France.|Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: Norma B
authors.initials: NB
authors.lastname: Romero
mesh_terms: D000293:Adolescent; D002648:Child; D019066:Facies; D005260:Female; D006801:Humans; D006985:Hyperventilation / Q000150:complications* / Q000175:diagnosis*; D008607:Intellectual Disability / Q000150:complications* / Q000175:diagnosis*; D018908:Muscle Weakness / Q000150:complications* / Q000175:diagnosis*; D009135:Muscular Diseases / Q000150:complications / Q000175:diagnosis; D012508:Sarcolemma / Q000473:pathology*
keywords: congenital myopathy; cylindrical spirals; electron microscopy; epileptic encephalomyopathy; inclusions; neuromuscular disorders; neuropathology