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Congenital muscular dystrophy

✍ Scribed by Leyten, Q.H.; Gabreëls, F.J.M.; Renier, W.O.; Joosten, E.M.G.; ter Laak, H.J.; Renkawek, K.; Sengers, R.C.A.; Mullaart, R.A.

Book ID: 122785582
Publisher: Elsevier Science
Year: 1990
Tongue: English
Weight: 63 KB
Volume: 92
Category: Article
ISSN: 0303-8467
DOI: 10.1016/0303-8467(90)90039-8

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Merosin (also called as Laminin-2) is an isoform of laminin comprised of the ␣2, ␤1 and ␥1 chains. In European populations, half of the patients with classical congenital muscular dystrophy have mutations of the LAMA2 gene (6q22-23) and present reduced or absence of laminin ␣2 chain. This form is ge