title: Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.
abstract: BACKGROUND
  The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM).
  
  
  METHODS
  Whole-body magnetic resonance imaging (WBMRI) was used in 9 patients using T1-weighted turbo spin-echo (T1-TSE) sequences and short tau inversion recovery (STIR) in 5 patients.
  
  
  RESULTS
  Analysis of signal and volume abnormalities by T1-TSE sequences in 109 muscles showed a homogeneous pattern characterized by a recognizable combination of atrophy and signal abnormalities in selected muscles of the neck, trunk, pelvic girdle, and lower limbs. Severe wasting of sternocleidomastoid muscle and atrophy of semimembranosus were detected. Selective paraspinal, gluteus maximus, and thigh muscle involvement was also observed. The lower leg was less constantly affected.
  
  
  CONCLUSIONS
  WBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogeneous, recognizable pattern in SEPN1-RM, distinct from other genetic muscle diseases.
authors: Assistance Publique des Hôpitaux de Paris (AP-HP), Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.
authors: Karolina
authors: K
authors: Hankiewicz
authors: AP-HP, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital R. Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.|Centre de Référence de Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Réseau National Français de la Filiére Neuromusculaire (FILNEMUS).|Université de Versailles-St Quentin, U1179 UVSQ - INSERM, Montigny, France.
authors: Robert Y
authors: RY
authors: Carlier
authors: Service de Pédiatrie, Centre Hospitalier Côte Basque, Pays Basque, France.
authors: Leila
authors: L
authors: Lazaro
authors: Instituto de Neurología Infanto Juvenil - Centro de estudio y tratamiento de epilepsia y sueño (CETES), Córdoba, Argentina.
authors: Javier
authors: J
authors: Linzoain
authors: Centre de Référence de Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Réseau National Français de la Filiére Neuromusculaire (FILNEMUS).|AP-HP, Service de Neurologie Pédiatrique, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France.
authors: Christine
authors: C
authors: Barnerias
authors: Assistance Publique des Hôpitaux de Paris (AP-HP), Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.|Servicio de Neurología Pediátrica del Hospital Universitario La Paz, TRADESMA, IdiPaz, Universidad Autónoma de Madrid, Madrid, España.
authors: David
authors: D
authors: Gómez-Andrés
authors: Assistance Publique des Hôpitaux de Paris (AP-HP), Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.|Unidad de Neurología, División de pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.|Unidad de Neurología, Servicio de Pediatría, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile.
authors: Daniela
authors: D
authors: Avila-Smirnow
authors: Assistance Publique des Hôpitaux de Paris (AP-HP), Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.|Inserm, U787 Myology group, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, UPMC, UMRS 787, Paris, France.|AP-HP, Centre de Référence des Maladies Neuromusculaires Paris-Est, Service de Neurologie, GH Pitie-Salpêtrière, Paris, France.
authors: Ana
authors: A
authors: Ferreiro
authors: Assistance Publique des Hôpitaux de Paris (AP-HP), Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.|Centre de Référence de Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Réseau National Français de la Filiére Neuromusculaire (FILNEMUS).
authors: Brigitte
authors: B
authors: Estournet
authors: Sorbonne Universités, UPMC Universitaire Paris 06, INSERM UMR S1166, Paris, France.
authors: Pascale
authors: P
authors: Guicheney
authors: University of Versailles - St Quentin en Yvelines, Division of Medical Genetics, U1179 UVSQ - INSERM, Montigny, France.
authors: Dominique P
authors: DP
authors: Germain
authors: AP-HP, U. F. Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, G. H. Pitié-Salpêtriére, Inserm, UMRS 974, Paris, France.
authors: Pascale
authors: P
authors: Richard
authors: Servicio de Resonancia Magnética Nuclear, Instituto Conci Carpinella, Córdoba, Argentina.
authors: Sebastian
authors: S
authors: Bulacio
authors: AP-HP, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital R. Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.
authors: Dominique
authors: D
authors: Mompoint
authors: Assistance Publique des Hôpitaux de Paris (AP-HP), Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.|Centre de Référence de Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Réseau National Français de la Filiére Neuromusculaire (FILNEMUS).|Université de Versailles-St Quentin, U1179 UVSQ - INSERM, Montigny, France.
authors: Susana
authors: S
authors: Quijano-Roy
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics*; D051140:Selenoproteins / Q000235:genetics*; D051598:Whole Body Imaging / Q000379:methods; D055815:Young Adult
chemical_list: D009124:Muscle Proteins; C435489:SELENON protein, human; D051140:Selenoproteins
keywords: MRI; genetics; heatmap analysis; magnetic resonance imaging; myopathy; pediatrics