Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency

Neurology

Volumn 46, Issue 5, 1996, Pages 1354-1358

  Minetti, C ^a,b   Bado, M ^a   Morreale, G ^a   Pedemonte, M ^a   Cordone, G ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN A2; IMMUNOGLOBULIN HEAVY CHAIN; LAMININ; MEROSIN;

ARTICLE; BASEMENT MEMBRANE; CASE REPORT; CELL PROLIFERATION; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MUSCLE BIOPSY; MUSCLE CELL; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; SYMPTOMATOLOGY;

EID: 0029992191     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.46.5.1354     Document Type: Article

References (29)

1. Dubowitz V. Muscle disorders in childhood. 2nd ed. London: Saunders, 1995.
2. Banker BQ. The congenital muscular dystrophies. In: Engel AG, Banker BQ, eds. Myology. vol 2, 2nd ed. New York: McGraw-Hill Book Company, 1994:1275-1289.
3. Dubowitz V, Fardeau M. Workshop report. Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy. The Netherlands, 22-24 April 1994. Neuromuscul Disord 1995;5:253-258.
4. Tomé FMS, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 1994; 317:351-357.
5. Philpot J, Sewry C, Pennock J, Dubowitz V. Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromuscul Disord 1995;5:301-305.
6. Sewry C, Philpot J, Mahony D, et al. Expression of laminin subunits in congenital muscular dystrophy. Neuromuscul Disord 1995;5:307-316.
7. Kobayashi O, Hayashi Y, Arahata K, et al. Congenital muscular dystrophy: clinical and pathological study of 50 patients with the classical (Occidental) merosin-positive form. Neurology 1996;46:815-818.
8. Connolly AM, Pestronk A, Planer GJ, et al. Congenital muscular dystrophy syndromes distinguished by alkaline and acid phosphatase, merosin, and dystrophin staining. Neurology 1996;46:810-814.
9. Toda T, Segawa M, Nomura Y, et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet 1993;5:283-286.
10. Burgeson RE, Chiquet M, Deutzmann R, et al. A new nomenclature for the laminins. Matrix Biol 1994;14:209-211.
11. Vuolteenaho R, Nissinen M, Sainio K, et al. Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues. J Cell Biol 1994;124:381-394.
12. Hillaire D, Leclerc A, Fauré S, et al. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 1994;3:1657-1661.
13. Arahata K, Hayashi Y, Koga R, et al. Laminin in animal models for muscular dystrophy. Proc Japan Acad 1993;69(B): 259-264.
14. Sunada Y, Bernier SM, Kozak CA, Yamada Y, Campbell KP. Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus. J Biol Chem 1994; 269:13729-13732.
15. Xu H, Christmas P, Wu X, Wewer U, Engvall E. Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse. Proc Natl Acad Sci USA 1994;91: 5572-5576.
16. Leivo L, Engvall E. Merosin, a protein specific for basement membrane of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development. Proc Natl Acad Sci USA 1988;85:1544-1548.
17. Engvall E, Earwicker D, Haaparanta T, Ruoslahti E, Sanes JR. Distribution and isolation of four laminin variants: tissue restricted distribution of heterotrimers assembled from five different subunits. Cell Regul 1990;1:731-740.
18. Engvall E, Davies GE, Dickerson K, Ruoslahti E, Varon S, Manthorpe M. Mapping of domains in human laminin using monoclonal antibodies: localization of the neurite-promoting site. J Cell Biol 1986;103:2457-2465.
19. Minetti C, Beltrame F, Marcenaro G, Bonilla E. Dystrophin at the plasma membrane of human muscle fibers shows a costameric localization. Neuromuscul Disord 1992;2:99-109.
20. Engvall E. Laminin variants: why, where and when? Kidney Int 1993;43:2-6.
21. Ehrig K, Leivo I, Argraves WS, Ruoslahti E, Engvall E. Merosin, a tissue-specific basement membrane protein is a laminin-like protein. Proc Natl Acad Sci USA 1990;87:3264-3268.
22. Xu H, Wu X, Wewer U, Engvall E. Murine muscular dystrophy caused by a mutation in the laminin α2 (Lama2) gene. Nat Genet 1994;8:297-302.
23. Meier H, Southard JL. Muscular dystrophy in the mouse caused by an allele at the dy-locus. Life Sci 1970;9:137-142.
24. Sanes JR. Laminin, fibronectin, and collagen in synaptic and extrasynaptic portions of muscle fiber basement membrane. J Cell Biol 1982;93:442-451.
25. Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaughter CA, Sernett SW, Campbell KP. Primary structure of dystrophin-associated glycoprotein linking dystrophin to the extracellular matrix. Nature 1992;355:696-702.
26. Ervasti JM, Campbell KP. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 1993;122:809-823.
27. Campbell KP. Three muscular dystrophies: loss of cytoskeleton extracellular matrix linkage. Cell 1995;80:675-679.
28. Beckerie MC, Yeh RK. Talin: role at sites of cell-substratum adhesion. Cell Motil Cytoskeleton 1990;16:7-13.
29. 1 integrins mediate laminin/merosin binding and function as costimulary molecules for human thymocyte proliferation. J Immunol 1995;154:500-510.