The molecular neuropathology of the muscular dystrophies: A review and update

Journal of Neuropathology and Experimental Neurology

Volumn 59, Issue 12, 2000, Pages 1019-1030

  Lidov, H G W ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Caveolin; Dysferlin; Dystrophin; Emerin; Limb girdle; Muscular dystrophy; Sarcoglycan

Indexed keywords

CALPAIN; CAVEOLIN 3; DYSFERLIN; DYSTROPHIN; EMERIN; GENE PRODUCT; LAMIN A; LAMIN C; PROTEIN; SARCOGLYCAN;

CLINICAL FEATURE; DISEASE COURSE; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENE LOCATION; GENOTYPE; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; INHERITANCE; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NEUROPATHOLOGY; ONSET AGE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; REVIEW;

EID: 0034530956     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1093/jnen/59.12.1019     Document Type: Review

References (100)

1. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
2. Muscular dystrophies and the dystrophin-glycoprotein complex
3. Dystrophin-associated proteins in muscular dystrophy
4. Small-caliber skeletal muscle fibers do not suffer deleterious consequences of dystrophic gene expression
5. Extraocular muscles are spared in advanced Duchenne dystrophy
6. Extraocular muscle involvement in Becker muscular dystrophy
7. Intellectual function in childhood progressive muscular dystrophy
8. Genetic and clinical correlations of Xp21 muscular dystrophy
9. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients
10. Central nervous system manifestations in childhood muscular dystrophy (CMD). I. Psychometric and electroencephalographic findings
11. The central nervous system in Duchenne muscular dystrophy
12. Living history biography: Peter Emil Becker
13. Cloning of the Duchenne/Becker muscular dystrophy locus
14. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
15. Dystrophin and its isoforms
16. Dystrophin: The protein product of the Duchenne muscular dystrophy locus
17. Dystrophin abnormalities in Duchenne/Becker muscular dystrophy
18. Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus
19. Dystrophins in vertebrates and invertebrates
20. Plasma membrane cytoskeleton of muscle: A fine structural analysis
21. Dystrophin at the plasma membrane of human muscle fibers shows a costameric localization
22. The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle
23. Complementary distributions of vinculin and dystrophin define two distinct sarcolemma domains in smooth muscle
24. The structural and functional diversity of dystrophin
25. Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations
26. The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion
27. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
28. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy
29. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
30. Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy
31. Disorganization of dystrophin costameric lattice in Becker muscular dystrophy
32. Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy
33. Is dystrophin labelling always discontinuous in Becker muscular dystrophy?
34. Exon skipping and translation in patients with frameshift deletions in the dystrophin gene
35. Dystrophin analysis in the diagnosis of childhood muscular dystrophy: An immunohistochemical study of 75 cases
36. Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl beta-D-glucoside
37. Congenital muscular dystrophy with merosin deficiency
38. The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives
39. Differential association of syntrophin pairs with the dystrophin complex
40. Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein
41. Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle
42. The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies
43. Molecular organization of sarcoglycan complex in mouse myotubes in culture
44. Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein
45. Muscle degeneration without mechanical injury in sarcoglycan deficiency
46. Dystroglycan is essential for early embryonic development: Disruption of Reichert's membrane in Dag1-null mice
47. Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses
48. Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy
49. Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex
50. Dystrobrevin and dystrophin: An interaction through coiled-coil motifs
51. Epsilon-sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D
52. Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb-girdle muscular dystrophy 2D gene
53. Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E
54. The limb-girdle muscular dystrophies: Diagnostic guidelines
55. Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12
56. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
57. Genomic screening for beta-sarcoglycan gene mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)
58. Clinical and histopathological features of abnormalities of the dystrophin-based membrane cytoskeleton
59. Disorders of the sarcoglycan complex (sarcoglycanopathies)
60. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population
61. Identification of the Syrian hamster cardiomyopathy gene
62. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage
63. Juvenile limb-girdle muscular dystrophy, Clinical, histopathological and genetic data from a small community living in the Reunion Islands
64. Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A
65. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb-girdle muscular dystrophy
66. Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
67. Myoferlin, a candidate gene and potential modifier of muscular dystrophy
68. Caveolin-3 in muscular dystrophy
69. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
70. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
71. Telethonin, a novel sarcomeric protein of heart and skeletal muscle
72. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy
73. Myotilin is mutated in limb girdle muscular dystrophy 1A
74. The Peter Emil Becker Award Lecture 1998. The saga of congenital muscular dystrophy
75. Deficiency of merosin (laminin M or alpha 2) in congenital muscular dystrophy associated with cerebral white matter alterations
76. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
77. Clinical and histopathological study of merosin-deficient and merosin-positive congenital muscular dystrophy
78. Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy
79. Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain
80. Clinical correlations in 16 patients with total or partial laminin alpha2 deficiency characterized using antibodies against 2 fragments of the protein
81. Merosin-deficient congenital muscular dystrophy: The spectrum of brain involvement on magnetic resonance imaging
82. Localization of laminin alpha 2 chain in normal human central nervous system: An immunofluorescence and ultrastructural study
83. Unusual type of benign x-linked muscular dystrophy
84. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
85. Emerin
86. Direct interaction between emerin and lamin A
87. The nuclear envelope, muscular dystrophy and gene expression
88. Mutation analysis in Emery-Dreifuss muscular dystrophy
89. Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy
90. Two distal mutations in the gene encoding emerin have profoundly different effects on emetin protein expression
91. X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample
92. Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype
93. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21
94. Dominantly inherited dilated cardiomyopathy
95. Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy
96. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
97. A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy