Changes of laminin β2 chain expression in congenital muscular dystrophy

Neuromuscular Disorders

Volumn 7, Issue 6-7, 1997, Pages 373-378

  Cohn, Ronald D ^b   Herrmann, Ralf ^c   Wewer, Ulla M ^a   Voit, Thomas ^c  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b UNIVERSITY OF DUISBURG ESSEN   (Germany)

^c NONE

Author keywords

Congenital muscular dystrophy; Extracellular matrix; Immunohistochemistry; Laminin; Walker Warburg syndrome

Indexed keywords

LAMININ; MEROSIN;

ARTICLE; BASEMENT MEMBRANE; BETA CHAIN; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FETUS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; MUSCULAR DYSTROPHY; NEWBORN; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SKELETAL MUSCLE; STAINING; WALKER WARBURG SYNDROME;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, DIRECT; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; LAMININ; MALE; MUSCULAR DYSTROPHIES; PREGNANCY;

EID: 0030879625     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00072-2     Document Type: Article

References (31)

1. Dubowitz V. Muscle disorders of childhood, 2nd. ed. London: Saunders, 1995.
2. Tomé FMS, Evangelista T, Lecicerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Scí Paris, Life Sci. 1994;317:351-357.
3. Sewry C, Philpot J, Mahony D, et al. Expression of laminin subunits in congenital muscular dystrophy. Neuromusc Disord 1995;5:307-316.
4. Hillaire D, Leclerc A, Fauré S, et al. Localization of merosin negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Human Mol Genet 1994;3:1657-1661.
5. Helbling-Leclerc A, Zhang X, Topaloglu H, et al. Mutations in the laminin α-2 chain gene (LAMA2) cause merosin deficient congenital muscular dystrophy. Nature Genet 1995;11:216-218.
6. Nissinen M, Helbling-Leclerc A, Zhang X, et al. Substitution of a conserved cysteine 996 in a cysteine rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein. Am J Hum Genet 1996;58:1177-1184.
7. Dobyns WB, Truwit CL. Lissencephaly and other malformations of cortical development. 1995 Update. Neuropediatrics 1995;26:132-147.
8. Voit T, Sewry CA, Meyer K, et al. Preserved merosin M chain (or laminin α2) expression in skeletal muscle membrane distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. Neuropediatrics. 1995;26:148-155.
9. Wewer UM, Durkin ME, Zhang X, et al. Laminin β-2 and adhalin deficiency in the skeletal muscle of Walker Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). Neurology 1995; 45:2099-2101.
10. Fukuyama Y, Osawa M, Suzuki H, Congenital progressive muscular dystrophy of the Fukuyama type-clinical, genetic and pathological considerations. Brain Dev 1981;3:1-29.
11. Osawa M, Aral Y, Ikenaka H, et al. Fukuyama type congenital progressive muscular dystrophy. Acta Pardiatr Jpn 1991;33:261-269.
12. Hayashi YK, Engvall E, Arikawa-Hiersawa E, et al. Abnormal localisation of laminin subunit in muscular dystrophies. J. Neurol Sci 1993;119:53-64.
13. Toda T, Segawa M, Nomura Y, et al. Localisation of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nature Genet 1993;5:283-286.
14. Santavouri P, Somer H, Sainio K, et al. Muscle-eye-brain disease (MEB). Brain Dev 1989;11:147-153.
15. Valanne L, Pihko H, Katevuo K, et al. MRI of the brain in muscle-eye-brain disease (MEB). Neuroradiology 1994;36:473-476.
16. Ranta S, Pihko H, Santavouri P, et al. Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. Neuromusc Disord 1995;5:221-225.
17. Wewer UM, Engvall E. Merosin/laminin-2 and muscular dystrophy. Neuromusc Disord 1996;6:409-418.
18. Engvall E, Wewer UM. Domains of laminin. J Cell Biochem 1996;61:493-501.
19. Dubowitz V. Muscle biopsy: a practical approach, 2nd ed. London: Baillière Tindall, 1985.
20. Engvall E, Earwide D, Haaparanta T, et al. Distribution and isolation of four laminin variants; tissue restricted distribution of heterotrimers assembled from five different subunits. J Cell Biol 1986;103:2457-2465.
21. Engvall E, Davies GE, Dickerson K, et al. Mapping of domains in human laminin using monoclonal antibodies; localization of the neunte promoting site. Cell Regul 1990;1:731-740.
22. 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.
23. Hunter DD, Shah V, Merlie JP, Sanes JR. A laminin-like adhesive protein concentrated in the synaptic cleft of the neuromuscular junction. Nature 1989;338:229-234.
24. Hunter DD, Porter BE, Bulock JM, et al. Primary sequence of a motor neuron selective adhesive site in the synaptic basal lamina protein s-laminin. Cell 1989;59:905-913.
25. Xu H, Wu XR, Wewer UM, Engvall E. Murine muscular dystrophy caused by a mutation in the laminin alpha2 (LAMA2) gene. Nat Genet 1994;8:297-302.
26. Sunada Y, Bernier SM, Utani A, Yamada Y, Campbell KP. Identification of a novel mutant transcript of laminin alpha2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J mice. Hum Mol Genet 1995;4:1055-1061.
27. Yamada H, Shimizu T, Tanaka T, et al. Dystroglycan is a binding protein of laminin and merosin in peripheral nerve. FEBS Lett 1994;352:49-53.
28. Campbell KP. Three muscular dystrophies: loss of cytoskeletal extracellular matrix linkage. Cell 1995;80:675-679.
29. Schuler F, Sorokin LM. Expression of laminin isoforms in mouse myogenic cells in vitro and in vivo. J Cell Sci 1995;108:3795-3804.
30. Hayashi YK, Koga R, Tsukahara T, et al. Deficiency of laminin α2 chain mRNA in muscle in a patient with merosin negative congenital muscular dystrophy. Muscle Nerve 1995;18:1027-1030.
31. Yamada H, Tomé FMS, Higuchi I, et al. Laminin abnormality in severe autosomal recessive muscular dystrophy. Lab Invest 1995;6:715-722.