Merosin deficiency-type congenital muscular dystrophy

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving antigen-antibody binding – specific binding protein...

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435 79, 435960, 436518, 436811, G01N 3353

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active

058637435

ABSTRACT:
Disclosed is a method for aiding in the diagnosis of merosin deficiency-type congenital muscular dystrophy (CMD). The method is based on the discovery of a previously unidentified form of CMD which is characterized by a substantial reduction in the levels of merosin in skeletal muscle tissue containing normal levels of dystrophin and dystrophin-associated proteins.

REFERENCES:
patent: 5444158 (1995-08-01), Engvall et al.
Tome, F.M.S., et al., "Congenital muscular dystrophy with merosin deficiency", C.R. Acad. Sci. Paris, 317 : 351 (1994).
Sunada, Y., et al., "Deficiency of Merosin in DystrophicdyMice and Genetic Linkage of Laminin M Chain Gene to dyLocus", The Journal of Biological Chemistry, 269: 13729 (1994).
Toda, T., et al., "Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33", Nature Genetics, 5: 283 (1993).
Hayashi, Y. K., et al., "Abnormal localization of laminin subunits in muscular dystrophies", J. of Neurological Sciences, 119: 53 (1993).
Ehrig, K. et al., "Merosin, a tissue-specific basement membrane protein, is a laminin-like protein", Proc. Natl. Acad. Sci, 87: 3264 (1990).

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