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 with syringomyelia
β Scribed by Enrico Parano; Raffaele Falsaperla; Vito Pavone; Rosario R. Trifiletti
- Book ID
- 119173332
- Publisher
- Elsevier Science
- Year
- 1994
- Tongue
- English
- Weight
- 406 KB
- Volume
- 11
- Category
- Article
- ISSN
- 0887-8994
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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