The muscular dystrophies

Lancet

Volumn 359, Issue 9307, 2002, Pages 687-695

  Emery, Alan E H ^a  

^a ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; CALPAIN; CAVEOLIN 3; CREATINE KINASE; DYSFERLIN; DYSTROPHIN; EMERIN; GLUCOCORTICOID; GLYCOSYLTRANSFERASE; INTEGRIN; LAMININ; LAMININ RECEPTOR; MEROSIN; SARCOGLYCAN; SELENOPROTEIN;

ADOPTIVE IMMUNOTHERAPY; BECKER MUSCULAR DYSTROPHY; CLINICAL FEATURE; CONFERENCE PAPER; CREATINE KINASE BLOOD LEVEL; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; DISTAL MYOPATHY; DUCHENNE MUSCULAR DYSTROPHY; ELECTROMYOGRAPHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HEART DILATATION; HUMAN; IMMUNOHISTOCHEMISTRY; INTERMITTENT POSITIVE PRESSURE VENTILATION; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE ATROPHY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NONHUMAN; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PATHOPHYSIOLOGY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN DEFECT; RESPIRATORY CARE; RESPIRATORY FAILURE; STEM CELL; SURGICAL TECHNIQUE;

EID: 0037160782     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(02)07815-7     Document Type: Conference Paper

References (77)

1. On fatty degeneration of the voluntary muscles: Report of the Royal Medical and Chirurgical Society, Dec 9, 1851
2. On granular and fatty degeneration of the voluntary muscles
3. Case 68: Paraplégie cérébrale, congénitale, hypertrophique
4. Recherches sur la paralysie musculaire pseudo-hypertrophique ou paralysie myo-sclérosique
5. ENMC sponsored workshop on congenital muscular dystrophy held in Naarden, The Netherlands, Oct 27-28, 2000
6. Congenital muscular dystrophy with merosin deficiency
7. Mutations in the integrin α-7 gene cause congenital myopathy
8. Prenatal diagnosis in congenital muscular dystrophy
9. A peculiar form of congenital progressive muscular dystrophy: Report of 15 cases
10. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
11. Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy
12. Eine neue X-chromosomale muskeldystrophie
13. Two new families of benign sex-linked recessive muscular dystrophy
14. Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls
15. Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion
16. Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy
17. Dystrophin: The protein product of the Duchenne muscular dystrophy locus
18. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
19. Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathy
20. Unusual type of benign X-linked muscular dystrophy
21. Emery-Dreifuss syndrome
22. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
23. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
24. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
25. A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with a conduction cardiomyopathy
26. Distal myopathies
27. Cardiac involvement in facioscapulohumeral muscular dystrophy: The experience of the Salpêtrière Hospital in 2001
28. Oculopharyngeal muscular dystrophy
29. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
30. The limb-girdle muscular dystrophies
31. Workshop report: Neonatal screening for muscular dystrophy
32. Failure of early diagnosis in symptomatic Duchenne muscular dystrophy
33. Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
34. Immunocytochemical analysis of human muscular dystrophy
35. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
36. Population frequencies of inherited neuromuscular diseases - A world survey
37. Neuromuscular disorders in childhood: A descriptive epidemiological study from western Sweden
38. Phenotype-genotype relationships in monogenic disease: Lessons from the thalassaemias
39. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction system disease
40. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
41. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
42. The role of the nuclear envelope in Emery-Dreifuss muscular dystrophy
43. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
44. A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy
45. Mutations in CAV3 cause mechanical hyper-irritability of skeletal muscle in rippling muscle disease
46. Genomic strategies to identify mammalian regulatory sequences
47. Retrotransposons as epigenetic mediators of phenotypic variation in mammals
48. Expression profiling in the muscular dystrophies: Identification of novel aspects of molecular pathophysiology
49. The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy
50. Muscular dystrophy into the new Millennium
51. The pathogenesis of Duchenne muscular dystrophy
52. The dystrophinopathies: An alternative to the structural hypothesis
53. Intracellular calcium and pathogenesis and antenatal diagnosis of Duchenne muscular dystrophy
54. Calcium and magnesium content in fetuses at risk for Duchenne muscular dystrophy
55. Surgical management of muscular dystrophy
56. Clinical indications for noninvasive positive pressure ventilation in chronic respiratory failure due to restrictive lung disease, COPD, and nocturnal hypoventilation
57. Prednisone in Duchenne muscular dystrophy
58. Report of the 75th ENMC international workshop: Treatment of muscular dystrophy
59. Gene therapy for Duchenne muscular dystrophy
60. Is there a future for gene therapy?
61. Adeno-associated virus vector carrying human minidystrophin genes effectively ameliorates muscular dystrophy in mdx mouse model
62. Full functional rescue of a complete muscle (TA) in dystrophic hamsters by adeno-associated virus vector-directed gene therapy
63. Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice
64. In vivo and in vitro correction of the mdx dystrophin gene nonsense mutation by short-fragment homologous replacement
65. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
66. Treatment of thalassaemia major with phenylbutyrate and hydroxyurea
67. Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene
68. Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice
69. An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy
70. Dystrophin expression in the mdx mouse restored by stem cell transplantation
71. Transplacental injection of somite-derived cells in mdx mouse embryos for the correction of dystrophin deficiency