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Nonmuscular involvement in merosin-negative congenital muscular dystrophy

✍ Scribed by H.Jacobus Gilhuis; Hans J ten Donkelaar; Ronald B Tanke; Dick M Vingerhoets; Machiel J Zwarts; Aad Verrips; Fons J.M Gabreëls

Book ID
117590979
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
127 KB
Volume
26
Category
Article
ISSN
0887-8994

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Merosin and congenital muscular dystroph
Merosin and congenital muscular dystrophy
✍ Miyagoe-Suzuki, Yuko; Nakagawa, Masahiro; Takeda, Shin'Ichi 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 181 KB

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