Search for dissertations about: "muskeldystrofi"

Found 3 swedish dissertations containing the word muskeldystrofi.

  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. Potential therapies and biomarkers for LAMA2-CMD. Does the microRNA hype deliver?

    University dissertation from Lund University: Faculty of Medicine

    Author : Bernardo Moreira Soares Oliveira; Lund University.; Lunds universitet.; [2018]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; muskeldystrofi; genetic-markers; Small non-coding RNAs;

    Abstract : Laminin α2 chain-deficient muscular dystrophy, or LAMA2-CMD, is a very severe disease caused by mutations in the LAMA2 gene. Skeletal muscle is the most affected tissue, with patients presenting symptoms such as hypotonia at birth, joint contractures and progressive muscle wasting. READ MORE

  3. 3. Living with deteriorating and hereditary disease : experiences over ten years of persons with muscular dystrophy and their next of kin

    University dissertation from Örebro : Örebro universitetsbibliotek

    Author : Katrin Boström; Örebro universitet.; [2005]
    Keywords : SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; Social sciences; muscular dystrophy; chronic disease; ten year follow up; next of kin; ICF; activity; sickness impact; hereditary aspects; illness related problems; quality of life; multimethod; content analysis; SOCIAL SCIENCES; SAMHÄLLSVETENSKAP; SOCIAL SCIENCES Social sciences Social work Disability research; SAMHÄLLSVETENSKAP Socialvetenskap Socialt arbete Handikappsforskning; Handikappvetenskap; Disability Research;

    Abstract : The overall aim of this thesis was to elucidate haw persona with muscular dystrophy (MD) and their next of kin experience and describe their daily lives over the last ten years. MD is a group of inherited disorders characterised by muscular weakness caused by muscle wasting. Both qualitative and quantitative methods were used. READ MORE