Advanced search
Found 3 swedish dissertations matching the above criteria.
-
1. Congenital muscular dystrophy with laminin α2 chain-deficiency. Initiation of disease and development of treatment
Abstract : Congenital muscle dystrophy type 1A (MDC1A) is a muscle disease caused bymutations in the LAMA2 gene, encoding the basement membrane protein lamininα2 chain. MDC1A patients exhibit neonatal onset of muscle weakness, progressivemuscle wasting and hypotonia, joint contractures that mostly affect elbows, hips,knees and ankles along with scoliosis and delayed motor milestones. READ MORE
-
2. Laminins and Congenital Muscular Dystrophy - From a Mouse Model to Gene Therapy of Laminin alpha2 chain deficiency?
Abstract : Gene therapy holds great promise for treating many genetic diseases, including muscular dystrophies. Mutations in the gene encoding laminin alpha2 chain ? an extracellular protein prominently expressed in the neuromuscular system ? cause a severe neuromuscular disorder: congenital muscular dystrophy type 1A (MDC1A). READ MORE
-
3. Studies of laminin a2 chain deficient mice -muscle sparing, charaterization of Cib2 and defective spermatorgenesis
Abstract : Mutations in the gene encoding laminin α2 chain, an extracellular matrix protein mainly expressed in the neuromuscular system, cause a severe form of muscular dystrophy, congenital muscular dystrophy type 1A (MDC1A). Laminin α2 chain is associated to the muscle fibers by two major receptors, where one of them, integrin α7β1, is diminished upon laminin α2 chain deficiency. READ MORE
