Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies

Journal of Neurology

Volumn 256, Issue 1, 2009, Pages 13-27

  Voermans, N C ^a   Bonnemann, C G ^b   Hamel, B C J ^a   Jungbluth, H ^c,d   Van Engelen, B G ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Bethlem myopathy; Central Core Disease (CCD); Joint hypermobility; Multiminicore Disease (MmD); Myopathy; Ullrich congenital muscular dystrophy

Indexed keywords

ACTIVIN A; ALPHA9 INTEGRIN; BETA SARCOGLYCAN; COLLAGEN TYPE 1; COLLAGEN TYPE 3; COLLAGEN TYPE 5; COLLAGEN TYPE 6; CREATINE KINASE; FIBRILLIN; INTEGRIN; LAMININ RECEPTOR; RYANODINE RECEPTOR; SELENOPROTEIN; TENASCIN; UNCLASSIFIED DRUG;

BETHLEM MYOPATHY; CENTRAL CORE DISEASE; CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; CREATINE KINASE BLOOD LEVEL; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISEASE SEVERITY; EHLERS DANLOS SYNDROME; GENE MUTATION; GENETIC DISORDER; HUMAN; JOINT CONTRACTURE; JOINT HYPERMOBILITY; KYPHOSCOLIOSIS; LIMB GIRDLE MUSCULAR DYSTROPHY; MARFAN SYNDROME; MULTIMINICORE DISEASE; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MYOPATHY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; SCORING SYSTEM; ULLRICH CONGENITAL MUSCULAR DYSTROPHY;

ANIMALS; CONNECTIVE TISSUE; DIAGNOSIS, DIFFERENTIAL; EHLERS-DANLOS SYNDROME; HUMANS; JOINT INSTABILITY; MARFAN SYNDROME; MUSCULAR DYSTROPHIES;

EID: 62149092195     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-009-0105-1     Document Type: Review

References (69)

1. Angelin 2007 Proc Natl Acad Sci USA 104 991
2. Banerjee 1988 Postgrad Med J 64 126
3. Barresi 2004 Nat Med 10 696
4. Behan 2003 J Neurol Neurosurg Psychiatry 74 633
5. Beighton 1998 Am J Med Genet 77 31
6. Beighton 1969 Ann Rheum Dis 28 228
7. Beighton 1973 Ann Rheum Dis 32 413
8. Bethlem 1976 Brain 99 91
9. Boileau 2005 Curr Opin Cardiol 20 194
10. Bonnemann 2003 Neuropediatrics 34 335
11. Bosman 2003 J Pathol 200 423
12. Bulbena 1992 J Rheumatol 19 115
13. Burch 1997 Nat Genet 17 104
14. Carvalho 2006 Cell Tissue Res 325 315
15. Cohn 2007 Nat Med 13 204
16. De Paepe 1996 Am J Med Genet 62 417
17. Deniziak 2007 Exp Cell Res 313 156
18. Dubowitz 1960 Lancet 2 23
19. Ferreiro 2002 Ann Neurol 51 750
20. Ferreiro 2002 Am J Hum Genet 71 739
21. Gamble 1988 J Bone Joint Surg Am 70 1061
22. Giske 2003 J Rehabil Med 35 221
23. Giunta 2005 Am J Med Genet A 133 158
24. Greenfield 1958 Brain 81 461
25. Hasan 2007 Int J Clin Pract 61 1308
26. Hernandez 1981 Clin Genet 20 222
27. Hernandez 1979 Clin Genet 16 335
28. Ishikawa 2002 Neurology 59 920
29. Jobsis 1996 Nat Genet 14 113
30. Jungbluth 2007 Orphanet J Rare Dis 2 25
31. Jungbluth 2007 Orphanet J Rare Dis 2 31
32. Jungbluth 2004 Neuromuscul Disord 14 754
33. Jungbluth 2002 Neurology 59 284
34. Kaindl 2005 Hum Mutat 26 279
35. Kawahara 2007 Neurology 69 1043
36. Lampe 2005 J Med Genet 42 673
37. Magee 1956 Brain 79 610
38. Mercuri 2005 Neuromuscul Disord 15 303
39. Mercuri 2004 Neuropediatrics 35 224
40. Mercuri 2002 Neurology 58 1354
41. Merlini 1987 Dev Med Child Neurol 29 106
42. Merlini 1994 Neuromuscul Disord 4 503
43. Nonaka 1981 Neuropediatrics 12 197
44. Pepe 2002 Neuromuscul Disord 12 296
45. Percheron 2007 Rheumatology 46 957
46. Petit 2003 Hum Mol Genet 12 1045
47. Pretorius 1983 Neurology 33 1087
48. Ritty 2003 Structure 11 1179
49. Sakai 1986 J Cell Biol 103 2499
50. Schalkwijk 2001 N Engl J Med 345 1167
51. Schessl J, Goemans NM, Magold AMIY, Zou Y, Hu Y, Kirschner J, Bonnemann CG (2008) Predominant fiber atrophy and fiber type disproportion in early Ullrich disease. Muscle Nerve
52. Schessl 2006 Semin Pediatr Neurol 13 80
53. Steinmann B, Royce PM, Superti-Furga A (2002) The Ehlers-Danlos syndromes. In: Steinmann B, Royce PM (eds) Connective tissue and its heritable disorders. Wiley-Liss Inc., pp 431-523
54. Tetreault 2006 Brain 129 2077
55. Ullrich 1930 Z Ges Neurol Psychiatr 126 171
56. Ullrich 1930 Monatsschr Kinderheilkd 47 502
57. van der Kooi 2006 Arch Neurol 63 1617
58. Voermans 2007 Neuromuscul Disord 17 597
59. Voermans 2008 Neuromuscul Disord 18 843
60. Voermans 2007 Am J Med Genet A 143 2215
61. Voit T (2007) C.I.2 An update on the congenital muscular dystrophies 12th World Muscle Society Congress 2007
62. Wall 2005 J Musculoskelet Neuronal Interact 5 70
63. Wenstrup 1989 J Pediatr 115 405
64. Yeowell 2000 Mol Genet Metab 71 212
65. Yis 2008 Neuromuscul Disord 18 210
66. Zhang 1995 J Cell Biol 129 1165
67. Zhang 1993 Nat Genet 5 46
68. Zhou 2007 Brain 130 2024
69. Zou 2008 J Neuropathol Exp Neurol 67 144