Neuromuscular Disorders
Volume 20, Issue 8 , Pages 517-523 , August 2010

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern

  • N. Deconinck

      Affiliations

    • Clinique de Neurologie, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), Bruxelles, Belgium
    • Institut de Myologie, Université Pierre et Marie Curie-Paris VI, Faculté de médecine, Paris, France
    • Corresponding Author InformationCorresponding author at: Department of Neurology, HUDERF, Av. J.J. Crocq 15, 1020 Brussels, Belgium. Tel.: +32 2 477 31 74; fax: +32 2 477 23 50.
    • ,
  • E. Dion

      Affiliations

    • Imagerie médicale, AP-HP Hôpital Louis Mourier, Colombes, Université Paris VII Denis Diderot, France
    • ,
  • R. Ben Yaou

      Affiliations

    • Institut de Myologie, Université Pierre et Marie Curie-Paris VI, Faculté de médecine, Paris, France
    • UPMC Univ Paris 06, UM 76, Institut de Myologie, IFR14, Paris F-75013, France
    • CNRS, UMR7215, Paris F-75013, France
    • Inserm, U974, Paris F-75013, France
    • ,
  • A. Ferreiro

      Affiliations

    • Inserm, U787 Groupe Myologie, Groupe Hopsitalier Pitié-Salpêtrière, Paris, France
    • UPMC Univ Paris 06, UMR_S787, Institut de Myologie, IFR14, Paris F-75013, France
    • AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Centre de référence neuromusculaire, Paris Est, Pitié, Paris, France
    • AP-HP, Hôpital Raymond Poincaré, Service de Pédiatrie, Centre de, Référence des Maladies Neuromusculaies GNMH, 92380 Garches, France
    • ,
  • B. Eymard

      Affiliations

    • Institut de Myologie, Université Pierre et Marie Curie-Paris VI, Faculté de médecine, Paris, France
    • AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Centre de référence neuromusculaire, Paris Est, Pitié, Paris, France
    • ,
  • L. Briñas

      Affiliations

    • UPMC Univ Paris 06, UM 76, Institut de Myologie, IFR14, Paris F-75013, France
    • CNRS, UMR7215, Paris F-75013, France
    • Inserm, U974, Paris F-75013, France
    • ,
  • C. Payan

      Affiliations

    • Institut de Myologie, Université Pierre et Marie Curie-Paris VI, Faculté de médecine, Paris, France
    • ,
  • T. Voit

      Affiliations

    • Institut de Myologie, Université Pierre et Marie Curie-Paris VI, Faculté de médecine, Paris, France
    • UPMC Univ Paris 06, UM 76, Institut de Myologie, IFR14, Paris F-75013, France
    • CNRS, UMR7215, Paris F-75013, France
    • Inserm, U974, Paris F-75013, France
    • ,
  • P. Guicheney

      Affiliations

    • Inserm-UPMC UMR S956, Génétique, Pharmacologie et Physiopathologie des Maladies Cardiovasculaires, Groupe Hopsitalier Pitié-Salpêtrière, Paris, France
    • UPMC Univ Paris 06, UMR_S956, IFR14, Paris F-75013, France
    • ,
  • P. Richard

      Affiliations

    • Inserm-UPMC UMR S956, Génétique, Pharmacologie et Physiopathologie des Maladies Cardiovasculaires, Groupe Hopsitalier Pitié-Salpêtrière, Paris, France
    • UPMC Univ Paris 06, UMR_S956, IFR14, Paris F-75013, France
    • AP-HP, Groupe Hospitalier Pitié-Salpêtrière, U.F. Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Paris F-75013, France
    • ,
  • V. Allamand

      Affiliations

    • UPMC Univ Paris 06, UM 76, Institut de Myologie, IFR14, Paris F-75013, France
    • CNRS, UMR7215, Paris F-75013, France
    • Inserm, U974, Paris F-75013, France
    • ,
  • G. Bonne

      Affiliations

    • UPMC Univ Paris 06, UM 76, Institut de Myologie, IFR14, Paris F-75013, France
    • CNRS, UMR7215, Paris F-75013, France
    • Inserm, U974, Paris F-75013, France
    • AP-HP, Groupe Hospitalier Pitié-Salpêtrière, U.F. Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Paris F-75013, France
    • ,
  • T. Stojkovic

      Affiliations

    • AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Centre de référence neuromusculaire, Paris Est, Pitié, Paris, France

Received 10 October 2009 ,Revised 23 February 2010 ,Accepted 8 April 2010.

References 

  1. Scacheri PC, Gillanders EM, Subramony SH, et al. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Neurology. 2002;58:593–602
  2. Pepe G, Bertini E, Bonaldo P, et al. Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23–24 November 2001, Naarden, The Netherlands. Neuromuscul Disord. 2002;12:984–993
  3. Merlini L, Martoni E, Grumati P, et al. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology. 2008;71:1245–1253
  4. Bethlem J, Van Wijngaarden GK. Benign myopathy with autosomal dominant inheritance. a report of three pedigrees. Brain. 1976;99:91–100
  5. Jobsis GJ, Boers JM, Barth PG, de Visser M. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain. 1999;122:649–655
  6. De Visser M, van der Kooi A, Jobsis GJ. Bethlem myopathy. In:  Engel AG,  Franzini-Armstrong C editor. Myology. New York: McGraw-Hill; 2004;p. 1135–1146
  7. Pan TC, Zhang RZ, Sudano DG, Marie SK, Bonnemann CG, Chu ML. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am J Hum Genet. 2003;73:355–369
  8. Lampe AK, Bushby KMD. Collagen VI related muscle disorders. J Med Genet. 2005;42:673–685
  9. Allamand V, Merlini L, Bushby K. On behalf of the Consortium for Collagen VI-related myopathies, 166th ENMC International Workshop on Collagen type VI-related Myopathies. Neuromuscul Disord. 2010;20:346–354
  10. Lampe AK, Zou Y, Sudano D, et al. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat. 2008;29:809–822
  11. Baker NL, Mörgelin M, Peat R, et al. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005;14:279–293
  12. Giusti B, Lucarini L, Pietroni V, et al. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Ann Neurol. 2005;58:400–410
  13. Jimenez-Mallebrera C, Maioli MA, Kim J, et al. A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. Neuromuscul Disord. 2006;16:571–582
  14. Lucarini L, Giusti B, Zhang RZ, et al. A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. Hum Genet. 2005;117:460–466
  15. Okada M, Kawahara G, Noguchi S, et al. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurology. 2007;69:1035–1042
  16. Pace RA, Peat RA, Baker NL, et al. Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Ann Neurol. 2008;64:294–303
  17. Peat RA, Baker NL, Jones KJ, North KN, Lamandé SRV. Arable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. Neuromuscul Disord. 2007;17:547–557
  18. Pepe G, Lucarini L, Zhang RZ, et al. COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. Ann Neurol. 2006;59:190–195
  19. Ullrich O. Kongenitale, atonisch-sklerotische Muskeldystrophie. Monatsschr Kinderheilkd. 1930;47:502–510
  20. Nonaka I, Une Y, Ishihara T, Miyoshino S, Nakashima T, Sugita H. A clinical and histological study of Ullrich’s disease (congenital atonic-sclerotic muscular dystrophy). Neuropediatrics. 1981;12:197–208
  21. Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet. 1999;21:285–288
  22. Bonne G, Mercuri E, Muchir A, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol. 2000;48:170–180
  23. Mercuri E, Lampe A, Allsop J, et al. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord. 2005;15:303–310
  24. Worman HJ, Bonne G. Laminopathies: a wide spectrum of human diseases. Exp Cell Res. 2007;313:2121–2133
  25. 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
  26. Hicks D, Lampe AK, Barresi R, et al. A refined diagnostic algorithm for Bethlem myopathy. Neurology. 2008;70:1192–1199
  27. De Visser M, de Voogt WG, la Riviere GV. The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy. Muscle Nerve. 1992;15:591–596
  28. Van der Kooi AJ, de Voogt WG, Bertini E, et al. Cardiac and pulmonary investigations in Bethlem myopathy. Arch Neurol. 2006;63:1617–1621
  29. Mercuri E, Pichiecchio A, Allsop J, Messina S, Pane M, Muntoni F. Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging. 2007;25:433–440
  30. Mercuri E, Cini C, Counsell S, et al. Muscle MRI findings in a three-generation family affected by Bethlem myopathy. Eur J Paediatr Neurol. 2002;6:309–314
  31. Mercuri E, Cini C, Pichiecchio A, et al. Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype. Neuromuscul Disord. 2003;13:554–558
  32. Mercuri E, Jungbluth H, Muntoni F. Muscle imaging in clinical practice. diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders. Curr Opin Neurol. 2005;18:526–537
  33. Bönnemann CG, Brockmann K, Hanefeld F. Muscle ultrasound in Bethlem myopathy. Neuropediatrics. 2003;34:335–336
  34. Mercuri E, Counsell S, Allsop J, et al. Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics. 2002;33:10–14
  35. Mercuri E, Bushby K, Ricci E, et al. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord. 2005;15:164–171
  36. Jungbluth H, Sewry CA, Counsell S, et al. Magnetic resonance imaging of muscle in nemaline myopathy. Neuromuscul Disord. 2004;14:779–784
  37. Carboni N, Murca M, Marrosu G, et al. Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation. Neuromuscul Disord. 2008;18:291–298
  38. Ben Yaou R, Toutain A, Arimura T, et al. Multitissular involvement in a family with LMNA and EMD mutations: role of digenic mechanism?. Neurology. 2007;68:1883–1894
  39. Lucioli S, Giusti B, Mercuri E, et al. Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology. 2005;64:1931–1937
  40. Baker NL, Mörgelin M, Pace RA, et al. Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol. 2007;62:390–405

PII: S0960-8966(10)00190-2

doi: 10.1016/j.nmd.2010.04.009

Neuromuscular Disorders
Volume 20, Issue 8 , Pages 517-523 , August 2010

Article Tools

* Image Usage & Resolution