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¦
CONGENITAL MUSCULAR DYSTROPHY
β Scribed by Joseph, BarryS.; Netsky, MartinG.; Bischel, MargaretD.; Gans, DavidS.; Barbour, BenjaminH.
- Book ID
- 122353998
- Publisher
- The Lancet
- Year
- 1972
- Tongue
- English
- Weight
- 163 KB
- Volume
- 299
- Category
- Article
- ISSN
- 0140-6736
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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