Limb-girdle muscular dystrophy: One gene with different phenotypes, one phenotype with different genes

Current Opinion in Neurology

Volumn 13, Issue 5, 2000, Pages 511-517

  Zatz, Mayana ^a   Vainzof, Mariz ^a   Passos Bueno, Maria Rita ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; DISEASE COURSE; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; PHENOTYPE; PROTEIN ANALYSIS; PROTEIN INTERACTION;

GENES, DOMINANT; GENES, RECESSIVE; HUMANS; MUSCULAR DYSTROPHIES; PHENOTYPE;

EID: 0033793971     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-200010000-00002     Document Type: Article

References (73)

1. Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7
2. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12
3. Genetic heterogeneity of limb girdle muscular dystrophy in Manitoba Hutterites
4. The seven autosomal recessive limb-girdle muscular dystrophies (LGMD): From lgmd2a to lgmd2g
5. The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms
6. Confirmation of genetic heterogeneity of limb-girdle muscular dystrophy: Linkage of an autosomal form to chromosome 5q
7. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cadiac involvement (LGMD1B) to chromosome 1q11-21
8. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
9. Caveolin-3 in muscular dystrophy
10. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23
11. Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: Clinical description and gene localization to 5q31
12. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
13. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
14. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
15. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
16. Screening of mutations in the caveolin-3 gene in Brazilian limb-girdle muscular dystrophy patients [abstract]
17. Myotilin, a novel sarcomeric protein with two lg-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy
18. Anticipation in autosomal dominant limb-girdle muscular dystrophy (LGMD1A)
19. The fascioscapulohumeral muscular dystrophy (FSHD1) gene affects more severely and more frequently males than females
20. Inspite of being caused by a single point mutation, familial amyloid polyneuropathy (Val30Met) is not a simple Mendelian disorder
21. A gene for autosomal recessive limbgirdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: Evidence for another LGMD locus
22. A novel mechanism leading to muscular dystrophy: Mutations in calpain 3 cause limb girdle muscular dystrophy type 2A
23. A novel mammalian gene related to the C. elegans spermatogenesis factor fer-1 is mutated in patients with limb-girdle muscular dystrophy type 2B (LGMD2B)
24. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
25. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
26. Human adhalin is alternatively spliced and the gene is located on chromosome 17q21
27. β-Sarcoglycan (43 DAG): Characterization and involvement in a recesive form of limb-girdle muscular dystrophy linked to chromosome 4q12
28. Mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
29. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
30. Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation
31. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR-LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
32. The 5q autosomal recessive limb-girdle muscular dystrophy (LGMD2F) is caused by a mutation in the σ-sarcoglycan gene
33. Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein
34. Limb-girdle muscular dystrophy type 2G (LGMD 2G) is caused by mutations in the gene encoding the sarcomeric protein telethonin
35. Serum creatine-kinase in progressive muscular dystrophies
36. Calpainopathy: A survey of mutations and polymorphisms
37. Screening of mutations in the calpain gene in Brazilian LGMD2A patients
38. Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb girdle muscular dystrophy type 2A
39. Characterization of the primary defect in LGMD2A and analysis of its secondary effect in other LGMDs
40. The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies
41. Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
42. Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation
43. Dysferlin is a plasma membrane protein and is expressed early in human development
44. Dysferlin analysis in autosomal recessive limb-girdle muscular dystrophies (AR-LGMD)
45. Telethonin, a novel sarcomeric protein of heart and skeletal muscle
46. Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin
47. Muscle assembly: A titanic achievement?
48. The sarcoglycan complex in limb-girdle muscular dystrophy
49. Membrane targeting and stabilization of sarcospan in mediated by the sarcoglycan subcomplex
50. Dystrophin: The protein product of the Duchenne muscular dystrophy locus
51. Syntrophins: Modular adapter proteins at the neuromuscular junction and the sarcolemma
52. Dystropglycan in development and disease
53. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
54. Dystrophin associated proteins in muscular dystrophy
55. Epsilon-sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D
56. Human epsilon-sarcoglycan is highly related to α-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene
57. ε-Sarcoglycan replaces α-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex
58. Disruption of the β-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E
59. Primary γ-sarcoglycanopathy (LGMD2C): Broadening of the mutational spectrum and diagnostic value of the immunohistochemical profile
60. Severe γ-sarcoglycanopathy caused by a novel missense mutation and a large deletion
61. Genomic screening for β-sarcoglycan mutations: Familial and sporadic severe limb-girdle muscular dystrophy type 2E in Brazil
62. Sarcoglycans in muscular dystrophy
63. A first missense mutation in the σ-sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) among Brazilian sarcoglycanopathies
64. A founder mutation in the γ-sarcoglycan gene of Gipsies possibly predating their migration out of India
65. Mutational diversity and hot spots in the α-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)
66. A common missense mutation in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
67. Primary adhalinopathy (α-sarcoglycanopathy): Clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
68. Beyond dystrophin: Current progress in the muscular dystrophies
69. Partial α-sarcoglycan deficiency associated with the retention of the SG complex in a LGMD2D family
70. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population
71. Mutations in the sarcoglycan genes in patients with myopathy
72. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations
73. Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy (DLMD) in Morocco indicates genetic homogeneity of the disease in North Africa