Genetics and the muscular dystrophies

Developmental Medicine and Child Neurology

Volumn 42, Issue 11, 2000, Pages 780-784

  Bushby, K ^a  

^a NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6; DYSTROPHIN; EMERIN; MEROSIN; SARCOGLYCAN;

AUTOSOMAL DOMINANT DISORDER; BECKER MUSCULAR DYSTROPHY; BETHLEM MYOPATHY; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE CARRIER; DUCHENNE MUSCULAR DYSTROPHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENE DELETION; GENETIC ANALYSIS; HEART DISEASE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCULAR DYSTROPHY; POINT MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; X CHROMOSOME LINKED DISORDER;

ANIMALS; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DISEASE MODELS, ANIMAL; HUMANS; INFANT; INFANT, NEWBORN; MUSCULAR DYSTROPHIES; PHENOTYPE; PROGNOSIS; SEVERITY OF ILLNESS INDEX;

EID: 0033709242     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0012162200001444     Document Type: Review

References (55)

1. Dystrophin: The protein product of the Duchenne muscular dystrophy locus
2. The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: An updated protocol
3. Duchenne and Becker muscular dystrophy
4. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
5. Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations
6. Protein truncation test (PTT) for rapid detection of translation-terminating mutations
7. Failure of early diagnosis in symptomatic Duchenne muscular dystrophy
8. 68th ENMC international workshop (5th international workshop): On congenital muscular dystrophy
9. Congenital muscular dystrophies
10. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin deficient congenital muscular dystrophy
11. Congenital muscular dystrophy with merosin deficiency
12. Sleep studies and supportive ventilatory treatment in patients with congenital muscle disorders
13. Evidence of left ventricular dysfunction in children with merosin-deficientcongenital muscular dystrophy
14. Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome
15. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
16. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD)
17. Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping
18. Bethlem myopathy: A slowly progressive congenital muscular dystrophy with contractures
19. Respiratory muscle involvement in Bethlem myopathy
20. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures
21. Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy
22. Emery-Dreifuss syndrome
23. Heart to heart: From nuclear proteins to Emery-Dreifuss muscular dystrophy
24. Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression
25. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
26. X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample
27. Early onset autosomal dominant myopathy with rigidity of the spine: A possible role for laminin beta 1?
28. Cardiac involvement in Emery Dreifuss muscular dystrophy: A case series
29. Genetic localisation of a newly recognised autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21
30. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
31. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
32. LMNA: Encoding lamin A/C is mutated in partial lipodystrophy
33. Facioscapulohumeral muscular dystrophy
34. Diagnostic, predictive and prenatal testing for facioscapulohumeral muscular dystrophy: Diagnostic approach for sporadic and familial cases
35. Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype
36. De novo facioscapulohumeral muscular dystrophy: Frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10
37. Phenotypic-genotypic correlation will assist genetic counselling in 4q35 facioscapulo-humeral muscular dystrophy
38. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35 facioscapulohumeral muscular dystrophy (FSHD)
39. Early onset facioscapulohumeral muscular dystrophy
40. 66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands
41. Making sense of the limb-girdle muscular dystrophies
42. The clinical spectrum of sarcoglycanopathies
43. Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies
44. Multiplex Western blotting system for the analysis of muscular dystrophy proteins
45. Mutations in the sarcoglycan genes in patients with myopathy
46. Primary adhalinopathy (alpha-sarcoglycanopathy): Clinical; Pathologic and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
47. Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by β sarcoglycan mutations
48. Heart involvement in muscular dystrophies due to sarcoglycan gene mutations
49. Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island
50. A biochemical, genetic and clinical survey of autosomal recessive limb-girdle muscular dystrophies in Turkey
51. Characterisation of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A
52. Dysferlin, a novel skeletal muscle gene, is mutation in Miyoshi myopathy and limb-girdle muscular dystrophy
53. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
54. The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy
55. Miyoshi-type distal muscular dystrophy: Clinical spectrum in 24 Dutch patients