Muscle magnetic resonance imaging abnormalities in X‐linked myopathy with excessive autophagy |
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| Authors: | Sandra Mercier MD PhD Armelle Magot MD Florence Caillon MD Bertrand Isidor MD Albert David MD Xavier Ferrer MD Anne Vital MD PhD Michelle Coquet MD Sini Penttilä MD Bjarne Udd MD PhD Jean‐Marie Mussini MD Yann Pereon MD PhD |
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| Affiliation: | 1. Service de Génétique Médicale, H?pital Mre‐Enfant, Nantes, France;2. Centre de Référence Maladies Neuromusculaires Nantes, Angers, H?tel‐Dieu, Nantes cedex, France;3. Atlantic Gene Therapy, Biotherapy Institute for Rare Diseases, Nantes, France;4. Laboratoire d'Explorations Fonctionnelles, H?tel‐Dieu, Nantes, France;5. Service de Radiologie Centrale, H?tel‐Dieu, Nantes, France;6. Centre de Référence Maladies Neuromusculaires, CHU de Bordeaux, Bordeaux, France;7. Neuromuscular Research Center, Tampere University and University Hospital Tampere, Finland;8. Folkhalsan Institute of Genetics, Helsinki, Finland;9. Vasa Central Hospital, Vasa, Finland;10. Laboratoire d'Anatomie Pathologique, H?tel‐Dieu, Nantes, France |
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| Abstract: | Introduction: 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. Muscle Nerve 52: 673–680, 2015 |
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| Keywords: | excessive autophagy muscle MRI myopathy VMA21 XMEA |
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