Seminars in Pediatric Neurology
Volume 18, Issue 4 , Pages 221-229 , December 2011

Muscle Imaging in Congenital Myopathies

  • Susana Quijano-Roy, MD, PhD

      Affiliations

    • APHP, Service de Pédiatrie, Hôpital Universitaire R. Poincaré, Garches, France
    • Centre de Référence Maladies Neuromusculaires (GNMH), Hôpital Universitaire R. Poincaré, Garches, France
  • ,
  • Robert Y. Carlier, MD, PhD

      Affiliations

    • Service d'imagerie médicale, Pôle neuro-locomoteur, APHP Hôpital Universitaire R. Poincaré Groupe hospitalier Garches, A. Paré, Sainte Perine, Berck, Garches, France
    • CIC-IT, Université Versailles Saint Quentin en Yvelines, Versailles, France
  • ,
  • Dirk Fischer, MD

      Affiliations

    • Department of Neuropaediatrics, University of Basel, Children's Hospital, Basel, Switzerland
    • Department of Neurology, University Hospital of Basel, Basel, Switzerland
    • Corresponding Author InformationAddress reprint requests to Dr Dirk Fischer, MD, Department of Neuropaediatrics, University of Basel, Children's Hospital, Spitalstrasse 33, CH-4056 Basel, Switzerland

References 

  1. North K . What's new in congenital myopathies? . Neuromuscul Disord . 2008;18:433–442
  2. Goebel HH , Borchert A . Protein surplus myopathies and other rare congenital myopathies . Semin Pediatr Neurol . 2002;9:160–170
  3. Sharma MC , Jain D , Sarkar C , et al.  Congenital myopathies—A comprehensive update of recent advancements . Acta Neurol Scand . 2009;119:281–292
  4. Clarke NF . Congenital fibre type disproportion—A syndrome at the crossroads of the congenital myopathies . Neuromuscul Disord . 2011;21:252–253
  5. Wattjes MP , Kley RA , Fischer D . Neuromuscular imaging in inherited muscle diseases . Eur Radiol . 2010;20:2447–2460
  6. Mercuri E , Pichiecchio A , Allsop J , et al.  Muscle MRI in inherited neuromuscular disorders: Past, present, and future . J Magn Reson Imaging . 2007;25:433–440
  7. Alanen AM , Falck B , Kalimo H , et al.  Ultrasound, computed tomography and magnetic resonance imaging in myopathies: Correlations with electromyography and histopathology . Acta Neurol Scand . 1994;89:336–346
  8. Quijano-Roy S , Mbieleu B , Bönnemann CG , et al.  De novo LMNA mutations cause a new form of congenital muscular dystrophy . Ann Neurol . 2008;64:177–186
  9. Quijano-Roy S, Avila-Smirnow D, Carlier R: Whole-body MRI muscle study group: in: 116th International WMS Congress. October 18-22, 2011, Portugal
  10. Romero NB , Lehtokari VL , Quijano-Roy S , et al.  Core-rod myopathy caused by mutations in the nebulin gene . Neurology . 2009;73:1159–1161
  11. Susman RD , Quijano-Roy S , Yang N , et al.  Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy . Neuromuscul Disord . 2010;20:229–237
  12. Carlier RY , Laforet P , Wary C , et al.  Whole-Body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns . Neuromuscul Disord . 2011;21:791–799
  13. Jungbluth H . Central core disease . Orphanet J Rare Dis . 2007;2:25
  14. Fischer D , Herasse M , Ferreiro A , et al.  Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene . Neurology . 2006;67:2217–2220
  15. Jungbluth H , Davis MR , Müller C , et al.  Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations . Neuromuscul Disord . 2004;14:785–790
  16. Ferreiro A , Quijano-Roy S , Pichereau C , et al.  Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: Reassessing the nosology of early-onset myopathies . Am J Hum Genet . 2002;71:739–749
  17. Jungbluth H . Multi-minicore disease . Orphanet J Rare Dis . 2007;2:31
  18. Mercuri E , Clements E , Offiah A , et al.  Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine . Ann Neurol . 2010;67:201–208
  19. Mercuri E , Talim B , Moghadaszadeh B , et al.  Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1) . Neuromuscul Disord . 2002;12:631–638
  20. Fischer D , Herasse M , Bitoun M , et al.  Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy . Brain . 2006;129:1463–1469
  21. Jungbluth H , Wallgren-Pettersson C , Laporte J . Centronuclear (myotubular) myopathy . Orphanet J Rare Dis . 2008;3:26
  22. Romero NB . Centronuclear myopathies: A widening concept . Neuromuscul Disord . 2010;20:223–228
  23. Jeub M , Bitoun M , Guicheney P , et al.  Dynamin 2-related centronuclear myopathy: Clinical, histological and genetic aspects of further patients and review of the literature . Clin Neuropathol . 2008;27:430–438
  24. Schessl J , Medne L , Hu Y , et al.  MRI in DNM2-related centronuclear myopathy: Evidence for highly selective muscle involvement . Neuromuscul Disord . 2007;17:28–32
  25. Nicot AS , Toussaint A , Tosch V , et al.  Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy . Nat Genet . 2007;39:1134–1139
  26. Böhm J , Yiş U , Ortaç R , et al.  Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation . Orphanet J Rare Dis . 2010;5:35
  27. Claeys KG , Maisonobe T , Böhm J , et al.  Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation . Neurology . 2010;74:519–521
  28. Bevilacqua JA , Bitoun M , Biancalana V , et al.  “Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy . Acta Neuropathol . 2009;117:283–291
  29. Wallgren-Pettersson C , Laing NG . 138th ENMC Workshop: Nemaline myopathy, 20-22 May 2005, Naarden, the Netherlands . Neuromuscul Disord . 2006;16:54–60
  30. Wallgren-Pettersson C , Pelin K , Nowak KJ , et al.  Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin . Neuromuscul Disord . 2004;14:461–470
  31. Jungbluth H , Sewry CA , Counsell S , et al.  Magnetic resonance imaging of muscle in nemaline myopathy . Neuromuscul Disord . 2004;14:779–784
  32. Wallgren-Pettersson C , Lehtokari VL , Kalimo H , et al.  Distal myopathy caused by homozygous missense mutations in the nebulin gene . Brain . 2007;130:1465–1476
  33. Wallgren-Pettersson C , Kivisaari L , Jääskeläinen J , et al.  Ultrasonography, CT, and MRI of muscles in congenital nemaline myopathy . Pediatr Neurol . 1990;6:20–28
  34. Lehtokari VL , Pelin K , Herczegfalvi J , et al.  Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy . Neuromuscul Disord . 2011;21:556–562
  35. Muelas N , Hackman P , Luque H , et al.  MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy . Neurology . 2010;75:732–741
  36. Dubourg O , Maisonobe T , Behin A , et al.  A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient . J Neurol . 2011;258:1157–1163
  37. Clarke NF , Domazetovska A , Waddell L , et al.  Cap disease due to mutation of the beta-tropomyosin gene (TPM2) . Neuromuscul Disord . 2009;19:348–351
  38. Lehtokari VL , Ceuterick-de Groote C , de Jonghe P , et al.  Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2 . Neuromuscul Disord . 2007;17:433–442

PII: S1071-9091(11)00088-X

doi: 10.1016/j.spen.2011.10.003

Seminars in Pediatric Neurology
Volume 18, Issue 4 , Pages 221-229 , December 2011