Histomorphological and histochemical variability was studied in muscle specimens from 30 patients with congenital muscular dystrophy (CMD). We found involvement of the central nervous system in 8 patients (Fukuyama CMD, F-CMD), involvement of the brain and the eyes in 5 patients (muscle, eye and bra
β¦ LIBER β¦
New developments in congenital muscular dystrophy
β Scribed by Victor Dubowitz
- Book ID
- 116168644
- Publisher
- Elsevier Science
- Year
- 1996
- Tongue
- English
- Weight
- 96 KB
- Volume
- 6
- Category
- Article
- ISSN
- 0960-8966
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Merosin (also called as Laminin-2) is an isoform of laminin comprised of the β£2, β€1 and β₯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 β£2 chain. This form is ge