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- Title
Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.
- Abstract
The article offers information on the study conducted by the authors related to the variable disease severity in Saudi Arabian and Sudanese families with several mutation of LAMA2. It states that the congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene that encodes the laminin chain, a component of the skeletal muscle extracellular matrix protein laminin-211. It mentions that the clinical spectrum of the disease is more heterogeneous than previously thought, particularly in terms of motor achievement and disease progression.
- Publication
BMC Research Notes, 2011, Vol 4, Issue 1, p534
- ISSN
1756-0500
- Publication type
Article
- DOI
10.1186/1756-0500-4-534