Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies

Seminars in Pediatric Neurology

Volumn 9, Issue 2, 2002, Pages 81-99

  Bönnemann, Carsten G ^a   Finkel, Richard S ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CAVEOLIN 3; COLLAGEN TYPE 4; DYSFERLIN; DYSTROGLYCAN; DYSTROGLYCAN SARCOGLYCAN COMPLEX; MUSCLE PROTEIN; SARCOGLYCAN; UNCLASSIFIED DRUG; CAVEOLIN; COLLAGEN TYPE 6; CYTOSKELETON PROTEIN; DAG1 PROTEIN, HUMAN; DYSF PROTEIN, HUMAN; DYSTROBREVIN; DYSTROPHIN ASSOCIATED PROTEIN; INTEGRIN; MEMBRANE PROTEIN; SLMAP PROTEIN, HUMAN; SYNTROPHIN; UTROPHIN;

COMPLEX FORMATION; CORRELATION ANALYSIS; DISEASE CLASSIFICATION; EXTRACELLULAR MATRIX; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; PATHOPHYSIOLOGY; PHENOTYPE; PROTEIN DEFICIENCY; REVIEW; SARCOLEMMA; ADOLESCENT; ATROPHY; CHILD; GENETICS; METABOLISM; MUSCULAR DYSTROPHY; PATHOLOGY; SKELETAL MUSCLE;

ADOLESCENT; ATROPHY; CAVEOLIN 3; CAVEOLINS; CHILD; COLLAGEN TYPE VI; CYTOSKELETAL PROTEINS; DYSTROGLYCANS; DYSTROPHIN-ASSOCIATED PROTEINS; HUMANS; INTEGRINS; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; UTROPHIN;

EID: 0035996026     PISSN: 10719091     EISSN: None     Source Type: Journal    
DOI: 10.1053/spen.2002.33795     Document Type: Article

References (178)

1. The limb girdle muscular dystrophies - Proposal for a new nomenclature
2. Dystrophin: The protein product of the Duchenne muscular dystrophy locus
3. Association of dystrophin and an integral membrane glycoprotein
4. Glycoprotein complex anchoring dystrophin to sarcolemma
5. Membrane organization of the dystrophin-glycoprotein complex
6. Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl beta-D-glucoside
7. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
8. A new model for the interaction of dystrophin with F-actin
9. Dystrophin and its isoforms
10. Dystrobrevin and dystrophin: An interaction through coiled-coil motifs
11. Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy
12. Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle
13. Desmuslin, an intermediate filament protein that interacts with alpha-dystrobrevin and desmin
14. The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each binds to dystrophin and its relatives
15. Differential association of syntrophin pairs with the dystrophin complex
16. Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and alpha1-syntrophin mediated by PDZ domains
17. Alpha1-syntrophin gene disruption results in the absence of neuronal-type nitric-oxide synthase at the sarcolemma but does not induce muscle degeneration
18. Role for alphadystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies
19. Human dystroglycan: Skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization
20. Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half the carboxy-terminal domain
21. Identification and characterization of the dystrophin anchoring site on beta-dystroglycan
22. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix
23. Dystroglycan in development and disease
24. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
25. Alpha-dystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability
26. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
27. The small leucinerich repeat proteglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle
28. Dystroglycan is essential for early embryonic development: Disruption of Reichert's membrane in Dagl-null mice
29. Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses
30. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
31. 2 deficiency and abnormal glycosylation of alpha-dystroglycan
32. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDCC
33. Muscular dystrophy and neuronal migration disorder daused by durations in glycosyltransferase, POMGnTI
34. Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse
35. Phenotypic and pathologic evaluation of the myd mouse: A candidate model for facioscapulohumeral dystrophy
36. Congenital disorders of glycosylation: The rapidly growing tip of the iceberg
37. From dystrophinopathy to sarcoglycanopathy: Evolution of a concept of muscular dystrophy
38. Disorders of the sarcoglycan complex (sarcoglycanopathies)
39. Sarcoglycans in muscular dystrophy
40. Sarcoglycan isoforms in skeletal muscle
41. Epsilon-Sarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex
42. Expression of gamma-sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex
43. Molecular organization of sarcoglycan complex in mouse myotubes in culture
44. Formation of sarcoglycan complex with differentiation in cultured myocytes
45. Biglycan is an extracellular scaffolding molecule of the dystrophin-associated protein complex
46. Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein
47. Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex
48. Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex
49. Sarcospandeficient mice maintain normal muscle function
50. The tetraspanin superfamily: Molecular facilitators
51. Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice
52. Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: A novel mechanism for cardiomyopathy and muscular dystrophy
53. Muscle degeneration without mechanical injury in sarcoglycan deficiency
54. Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in β-sarcoglycan-deficient mice
55. Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex
56. Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limbgirdle muscular dystrophy type 2E
57. Identification of the Syrian hamster cardiomyopathy gene
58. Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
59. Direct visualization of the dystrophin network on skeletal muscle fiber membrane
60. Processing of beta-dystroglycan by matrix metalloproteinase disrupts the link between the extracellular matrix and cell membrane via the dystroglycan complex
61. The dystrophin-glycopprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies
62. Dystrophin protects the sarcolemma from stresses developed during muscle contraction
63. Integrin-mediated signal transduction pathways
64. Integrins (alpha7beta1) in muscle function and survival: Disrupted expression in merosin-deficient congenital muscular dystrophy
65. Altered expression of the alpha 7betal integrin in human and murine muscular dystrophies
66. Enhanced expression of the alpha 7 beta 1 integrin reduces muscular dystrophy and restores viability in dystrophic mice
67. Absence of integrin a 7 causes a novel form of muscular dystrophy
68. Mutations in the integrin a 7 gene cause congenital myopathy
69. Bidirectional signaling between sarcoglycans and the integrin adhesion system in cultured L 6 myocytes
70. Caveolins, a family of scaffolding proteins for organizing "preassembled signaling complexes" at the plasma membrane
71. Caveolin proteins in signaling, oncogenic transformation and muscular dystrophy
72. Caveolin-3 in muscular dystrophy
73. Caveolin-3 directly interacts with the C-terminal tail of beta-dystroglycan: Identification of a central WW-like domain within caveolin family members
74. Caveolin-3 is not an integral component of the dystrophin glycoprotein complex
75. Interaction of neuronal nitric-oxide synthase with caveolin-3 in skeletal muscle: Identification of a novel caveolin scaffolding/inhibitory domain
76. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle
77. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
78. Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype
79. Trasngenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity
80. Caveolin-3 deficiency causes muscle degeneration in mice
81. Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and ttubule abnormalities
82. A gene related to Caenorhabditis elegans spermatogenesis factor fer-I is mutated in limb-girdle muscular dystrophy type 2B
83. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle musuclar dystrophy
84. Dysferlin is a plasma membrane protein and is expressed early in human development
85. Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
86. C2-domains, structure and function of a universal Ca2+-binding domain
87. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB 9, a nonsyndromic form of deafness
88. Myoferlin, a candidate gene and potential modifier of muscular dystrophy
89. The third human FER-1-like protein is highly similar to dysferlin
90. Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B
91. Inflammation in dysferlin myopathy: Immunohistochemical characterization of 13 patients
92. Collagen type VI
93. Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen
94. Integrin and Arg-Gly-Asp dependence of cell adhesion to the native and unfolded triple helix of collagen type VI
95. Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix
96. Collagen VI deficiency induces early onset myopathy in the mouse: An animal model for Bethlem myopathy
97. Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: A novel entity?
98. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3
99. Abnormal merosin in adults: A new form of late onset muscular dystrophy not linked to chromosome 6q2
100. A new form of late onset muscular dystrophy not linked to chromosome 6q2
101. The fukutin protein family - Of predicted enzymes modifying cell-surface molecules
102. Structure/function studies of glycosyltransferases
103. Workshop report: The 66th/67th ENMC sponsored workshop - The limb-girdle muscular dystrophies
104. The 5q autosomal recessive limb-girdle muscular dystrophy (LGMD 2F) is caused by a mutation in the β-sarcoglycan gene
105. Genomic screening for β-sarcoglycan mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)
106. Primary adhalinopathy (alpha-sarcoglycanopathy): Clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
107. Homozygous α-sarcoglycan mutation in two siblings: One asymptomatic and one steriod responsive mild limb-girdle muscular dystrophy patient
108. Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy
109. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia
110. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population
111. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations
112. The clinical spectrum of sarcoglycanopathies
113. Sarcoglycan deficiency in a large Italian population of myopathic patients
114. Heart involvement in muscular dystrophies due to sarcoglycan gene mutations
115. Cardiomyopathy in Duchenne, Becker and sarcoglycanopathies: A role for coronary dysfunction?
116. Brief report: Deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy
117. Heart transplantation in patients with inherited myopathies associated with end-stage cardiomyopathy: Molecular and biochemical defects on cardiac and skeletal muscle
118. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy
119. Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complex
120. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
121. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
122. β-sarcoglycan (43 DAG): Characterization and involvement in a recessive form of limb-girdle muscular dystrophy linked to chromosome 4q12
123. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
124. Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)
125. Mutations in the sarcoglycan genes in patients with myopathy
126. Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: From LGMD 2A to LGMD2G
127. Novel mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient: Mutations in brief no. 177. Online
128. Beta-sarcoglycan: Genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate
129. Mutations in the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy
130. A biochemical genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey
131. Severe γ-sarcoglycanopathy caused by a novel missense mutation and a large deletion
132. Primary γ-sarcoglycanopathy (LGMD 2C): Broadening of the mutational spectrum and diagnostic value of the immunohistochemical profile
133. Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation
134. A founder mutation in the gamma-sarcoglycan gene of gypsies possible predating their migration out of India
135. Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation
136. A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
137. A homozygous nonsense mutation in δ-sarcoglycan in exon 3 in a case of LGMD 2F
138. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCK-emia
139. Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy
140. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
141. A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita thomsen
142. Rippling muscle disease
143. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy
144. Dysferlin and muscular dystrophy
145. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy
146. Cal pain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy
147. Miyoshi-type distal muscular dystrophy: Clincal spectrum in 24 Dutch patients
148. Muscular dystrophy due to dysferlin deficiency in Libyan Jews: Clinical and genetic features
149. Dysferlinopathy (LGMD2B): A 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations
150. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy: Seventeen cases in eight families including an autopsied case
151. Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype
152. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)
153. Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy
154. Clinical variability of dysferlin myopathy in a population cluster from a founder mutation in Valencia (Spain)
155. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
156. Benign myopathy, with autosomal dominant inheritance: A report on three pedigrees
157. Genetic localization of Bethlem myopathy
158. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures
159. Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37
160. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy
161. Bethlem myopathy: A slowly progressive congenital muscular dystrophy with contractures
162. Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures: Description of two new families
163. Bethlem Myopathy (BETHLEM): 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands
164. Respiratory muscle involvement in Bethlem myopathy
165. Reduced collagen VI causes Bethlem myopathy: A heterozygous COL 6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency
166. A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy: A diagnostic approach in the mutations' screening of type VI collagen
167. Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion
168. A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding
169. Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations
170. The limb-girdle muscular dystrophies: Diagnostic guidelines
171. Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy
172. Secondary changes in dysferlin expression
173. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies
174. Multiplex Western blotting system for the analysis of muscular dystrophy proteins
175. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)
176. Phase I clinical trial utilizing gene therapy for limb girdle muscular dystrophy: Alpha-, beta-, gamma-, or delta-sarcoglycan gene delivered with intramuscular instillations of adeno-associated vectors
177. Stable restoration of the sarcoglycan complex in dystrophic muscle perfused with histamine and a recombinant adeno-associated viral vector
178. Strength improvement on prednisone in a patient with limb-girdle muscular dystrophy 2C (primary γ-sarcoglycanopathy)