Fukuyama-type congenital muscular dystrophy: Close relation between changes in the muscle basal lamina and plasma membrane

Neuromuscular Disorders

Volumn 9, Issue 6-7, 1999, Pages 388-398

  Matsubara, Shiro ^a   Mizuno, Yoshihiko ^b   Kitaguchi, Tetsuo ^a   Isozaki, Eiji ^a   Miyamoto, Kazuhito ^a   Hirai, Shunsaku ^a  

^a TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

^b Mizuno Hospital   (Japan)

Author keywords

Basal lamina; Congenital muscular dystrophy; Laminin; Plasma membrane

Indexed keywords

LAMININ; NERVE CELL ADHESION MOLECULE; SPECTRIN;

ARTICLE; BASEMENT MEMBRANE; CELL MEMBRANE; CELL SURFACE; CHILD; CLINICAL ARTICLE; ELECTRON MICROSCOPY; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; ULTRASOUND;

ADULT; BIOPSY; CELL MEMBRANE; CHILD; COMPLEMENT MEMBRANE ATTACK COMPLEX; CYTOSKELETAL PROTEINS; DYSTROGLYCANS; DYSTROPHIN; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; LAMININ; MALE; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; NEURAL CELL ADHESION MOLECULES; SARCOGLYCANS; SPECTRIN; UTROPHIN;

EID: 0032855087     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00049-8     Document Type: Article

References (29)

1. Tomé F.M.S., Evangelista L., Leclerc A., et al. Congenital muscular dystrophy with merosin deficiency. CR Acad Sci III Paris (Life Sciences). 317:1994;351-357.
2. Philipot J., Sewry C., Pennock J., Dubowitz V. Clinical phenotype in congenital muscular dystrophy. Correlation with expression of merosin in skeletal muscle. Neuromusc Disord. 5:1995;301-305.
3. Pegoraro E., Marks H., Garcia C., et al. Laminin α2 muscular dystrophy. Genotype/phenotype studies of 22 patients. Neurology. 51:1998;101-110.
4. Hayashi Y.K., Engvall E., Arikawa-Hirasawa E., et al. Abnormal expression of laminin subunits in muscular dystrophies. J Neurol Sci. 119:1993;53-64.
5. Fukuyama Y., Osawa M., Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type. Clinical, genetic and pathologic considerations. Brain Dev (Tokyo). 13:1981;1-29.
6. Fukuyama Y., Kawazura M., Haruna H. A peculiar form of congenital progressive muscular dystrophy. Paediatr Univ Tokyo. 4:1960;5-8.
7. Yamamoto T., Toyoda C., Kobayashi M., Kondo E., Saito K., Osawa M. Pial-glial barrier abnormalities in fetuses with Fukuyama congenital muscular dystrophy. Brain Dev. 19:1997;35-42.
8. Toda T., Segawa M., Nomura Y., et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet. 5:1993;283-286.
9. Kobayashi K., Nakahori Y., Miyake M., et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 394:1998;388-392.
10. Nakano I., Funahashi M., Takada K., Toda T. Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? Pathological study of the cerebral cortex of an FCMD fetus. Acta Neuropathol. 91:1996;313-321.
11. Ishii H., Hayashi Y.K., Nonaka I., Arahata K. Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy. Neuromusc Disord. 7:1997;191-197.
12. Osari S., Kobayashi O., Yamashita Y., et al. Basement membrane abnormality in merosin-negative congenital muscular dystrophy. Acta Neuropathol. 91:1996;332-336.
13. Li M., Dickson D.W., Spiro A.J. Abnormal expression of laminin beta 1 chain in skeletal muscle of adult-onset limb-girdle muscular dystrophy. Arch Neurol. 54:1997;1457-1461.
14. Miner J.H., Patton B.L., Lenz S.L., et al. The laminin alpha chains. Expression, developmental transitions, and chromosomal location of alpha 1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha 3 isoform. J Cell Biol. 137:1997;685-701.
15. Tiger C.F., Champliaud M.F., Pedrosa-Domellof F., Thornell L.E., Ekblom P., Gullberg D. Presence of laminin alpha 5 chains and lack of laminin alpha 1 chain during human muscle development and in muscular dystrophies. J Biol Chem. 272:1997;28590-28595.
16. Wakayama Y., Murahashi M., Jimi T., Kojima H., Shibuya S., Oniki H. Immunogold and freeze etch electron microscopic studies of merosin localization in basal lamina of human skeletal muscle fibers. Acta Neuropathol. 93:1997;34-42.
17. Ohlendieck K. Towards an understanding of the dystrophin-glycoprotein complex: linkage between the extracellular matrix and the membrane cytoskeleton in muscle fibers. Eur J Cell Biol. 69:1996;1-10.
18. Hayashi Y.K., Chou F.L., Engvall E., et al. Mutations in the integrin (7 gene cause congenital myopathy. Nat Genet. 19:1998;94-97.
19. Ozawa E., Noguchi S., Mizuno Y., Hagiwara Y., Yoshida M. From dystrophinopathy to sarcoglycanopathy. Evolution of a concept of muscular dystrophy. Muscle and Nerve. 21:1998;421-438.
20. Sewry C.A., Philpot J., Mahony D., Wilson L.A., Muntoni F., Dubowitz V. Expression of laminin subunits in congenital muscular dystrophy. Neuromusc Disord. 5:1995;307-316.
21. Matsumura K., Nonaka I., Campbell K.P. Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. Lancet. 341:1993;521-522.
22. Arahata K., Hayash Y.K., Mizuno Y., Yoshida M., Ozawa M. Dystrophin-associated glycoprotein and dystrophin co-localisation at sarcolemma in Fukuyama congenital muscular dystrophy [letter; comment]. Lancet. 342:1993;623-624.
23. Sanes J. The extracellular matrix. In: Engel, A., Franzini-Armstrong, C., editors. Myology. Basic and clinical, 2nd ed., vol. 1:1994;242-260.
24. Horwitz A., Schotland D., Franzini-Armstrong C. The plasma membrane of the muscle fiber. Composition and structure. In: Engel, A., Franzini-Armstrong, C., editors. Myology. Basic and clinical, 2nd ed., vol. 1:1994;200-222.
25. Yamada H., Tome F.M., Higuchi I., et al. Laminin abnormality in severe childhood autosomal recessive muscular dystrophy. Lab Invest. 72:1995;715-722.
26. Kunudsen K., Horwitz A. The plasma membrane of the muscle fiber. Adhesion molecules. In: Engel, A., Franzini-Armstrong, C., editors. Myology. Clinical and basic, 2nd ed., vol. 1:1994;223-241.
27. Mokri B., Engel A. Duchenne dystrophy: electron microscopic findings pointing total basic or early abnormality in the plasma membrane of the muscle fiber. Neurology. 25:1975;1111-1120.
28. Straub V., Rafael J.A., Chamberlain J.S., Campbell K.P. Animal models for muscular dystrophy show different patterns of sarcolemmal disruption. J Cell Biol. 139:1997;375-385.
29. Matsubara S., Mair W.G.P. Ultrastructural changes in polymyositis. Brain. 102:1979;701-725.