title: Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy.
abstract: BACKGROUND
  X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive myopathy due to recently reported mutations in the VMA21 gene.
  
  
  METHODS
  Four men from 2 separate families were studied. The clinical presentation, genetic data, muscle biopsy, and muscle MRI were analyzed.
  
  
  RESULTS
  A known VMA21 mutation, c.163+4A>G, and a new mutation, c.163+3A>G, respectively, were found in the 2 families. The clinical course was characterized by onset in childhood and progressive muscle weakness with a limb-girdle pattern. Muscle biopsy revealed a mild myopathy with an increased number of giant autophagic vacuoles. Whole-body muscle MRI showed that pelvic girdle and proximal thighs were the most and earliest affected territories, with sparing of rectus femoris muscles. Muscle changes essentially consisted of degenerative fatty replacement.
  
  
  CONCLUSIONS
  This study highlights a distinctive MRI pattern of muscle involvement, which can be helpful for diagnosis of XMEA, even before muscle biopsy or genetic analysis.
authors: Service de Génétique Médicale, Hôpital Mre-Enfant, CHU de Nantes, Nantes, France.|Centre de Référence Maladies Neuromusculaires Nantes, Angers, Hôtel-Dieu, CHU de Nantes, 44093, Nantes cedex, France.|Atlantic Gene Therapy, Biotherapy Institute for Rare Diseases, Nantes, France.
authors: Sandra
authors: S
authors: Mercier
authors: Centre de Référence Maladies Neuromusculaires Nantes, Angers, Hôtel-Dieu, CHU de Nantes, 44093, Nantes cedex, France.|Atlantic Gene Therapy, Biotherapy Institute for Rare Diseases, Nantes, France.|Laboratoire d'Explorations Fonctionnelles, Hôtel-Dieu, CHU de Nantes, Nantes, France.
authors: Armelle
authors: A
authors: Magot
authors: Service de Radiologie Centrale, Hôtel-Dieu, CHU de Nantes, Nantes, France.
authors: Florence
authors: F
authors: Caillon
authors: Service de Génétique Médicale, Hôpital Mre-Enfant, CHU de Nantes, Nantes, France.|Centre de Référence Maladies Neuromusculaires Nantes, Angers, Hôtel-Dieu, CHU de Nantes, 44093, Nantes cedex, France.
authors: Bertrand
authors: B
authors: Isidor
authors: Service de Génétique Médicale, Hôpital Mre-Enfant, CHU de Nantes, Nantes, France.|Centre de Référence Maladies Neuromusculaires Nantes, Angers, Hôtel-Dieu, CHU de Nantes, 44093, Nantes cedex, France.
authors: Albert
authors: A
authors: David
authors: Centre de Référence Maladies Neuromusculaires, CHU de Bordeaux, Bordeaux, France.
authors: Xavier
authors: X
authors: Ferrer
authors: Centre de Référence Maladies Neuromusculaires, CHU de Bordeaux, Bordeaux, France.
authors: Anne
authors: A
authors: Vital
authors: Centre de Référence Maladies Neuromusculaires, CHU de Bordeaux, Bordeaux, France.
authors: Michelle
authors: M
authors: Coquet
authors: Neuromuscular Research Center, Tampere University and University Hospital Tampere, Finland.
authors: Sini
authors: S
authors: Penttilä
authors: Neuromuscular Research Center, Tampere University and University Hospital Tampere, Finland.|Folkhalsan Institute of Genetics, Helsinki, Finland.|Vasa Central Hospital, Vasa, Finland.
authors: Bjarne
authors: B
authors: Udd
authors: Centre de Référence Maladies Neuromusculaires Nantes, Angers, Hôtel-Dieu, CHU de Nantes, 44093, Nantes cedex, France.|Laboratoire d'Anatomie Pathologique, Hôtel-Dieu, CHU de Nantes, Nantes, France.
authors: Jean-Marie
authors: JM
authors: Mussini
authors: Centre de Référence Maladies Neuromusculaires Nantes, Angers, Hôtel-Dieu, CHU de Nantes, 44093, Nantes cedex, France.|Atlantic Gene Therapy, Biotherapy Institute for Rare Diseases, Nantes, France.|Laboratoire d'Explorations Fonctionnelles, Hôtel-Dieu, CHU de Nantes, Nantes, France.
authors: Yann
authors: Y
authors: Pereon
mesh_terms: D000293:Adolescent; D000328:Adult; D001343:Autophagy; D001706:Biopsy; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D009154:Mutation / Q000235:genetics; D020914:Myopathies, Structural, Congenital / Q000235:genetics / Q000473:pathology*; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics
chemical_list: C540401:VMA21 protein, human; D025262:Vacuolar Proton-Translocating ATPases
keywords: VMA21; XMEA; excessive autophagy; muscle MRI; myopathy