Search for dissertations about: "MDC1A"

Found 3 swedish dissertations containing the word MDC1A.

  1. 1. Congenital muscular dystrophy with laminin α2 chain-deficiency. Initiation of disease and development of treatment

    University dissertation from Lund University: Faculty of Medicine

    Author : Zandra Körner; Lund University.; Lunds universitet.; [2016]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; muskeldystrofi; Muscular dystrophy; Autophagy; proteasome; Laminin; MDC1A;

    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. 2. Laminins and Congenital Muscular Dystrophy - From a Mouse Model to Gene Therapy of Laminin alpha2 chain deficiency?

    University dissertation from Faculty of Medicine, Department of Experimental Medical Science

    Author : Kinga Gawlik; Lund University.; Lunds universitet.; [2006]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; laminin; muscular dystrophy; gene therapy; Histology; cytochemistry; histochemistry; tissue culture; Histologi; cytokemi; histokemi; vävnadskultur; Genetics; cytogenetics; cytogenetik; Skeleton; muscle system; rheumatology locomotion; Skelett; muskelsystem; reumatologi; Genetik;

    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. 3. Studies of laminin a2 chain deficient mice -muscle sparing, charaterization of Cib2 and defective spermatorgenesis

    University dissertation from Department of Experimental Medical Science, Lund Univeristy

    Author : Mattias Häger; Lund University.; Lunds universitet.; [2008]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    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