Essays about: "muscular dystrophy"

Showing result 1 - 5 of 9 essays containing the words muscular dystrophy.

  1. 1. Exploring the genetic cause of myotonic dystrophy in horses

    University essay from SLU/Dept. of Animal Breeding and Genetics

    Author : Thomas Simon; [2023]
    Keywords : genetics; bioinformatics; myotonic dystrophy; horses; variant analysis;

    Abstract : Myotonic Dystrophy (MD) is an inherited neuromuscular disorder that leads to a wide range of clinical signs including stiffness, abnormal muscle relaxation, and muscle atrophy or hypertrophy. Affected muscles develop a prolonged contracture in response to percussion of the muscle and show waxing and waning complex repetitive discharges in electromyography (EMG). READ MORE

  3. 2. Exploring the genetic cause of myotonic dystrophy in horses

    University essay from SLU/Dept. of Animal Breeding and Genetics

    Author : Thomas Simon; [2023]
    Keywords : genetics; bioinformatics; myotonic dystrophy; horses; variant analysis;

    Abstract : Myotonic Dystrophy (MD) is an inherited neuromuscular disorder that leads to a wide range of clinical signs including stiffness, abnormal muscle relaxation, and muscle atrophy or hypertrophy. Affected muscles develop a prolonged contracture in response to percussion of the muscle and show waxing and waning complex repetitive discharges in electromyography (EMG). READ MORE

  4. 3. Investigating the subcellular localisation and function(s) of dystrophin protein Dp71 isoforms in glioma

    University essay from Uppsala universitet/Institutionen för biologisk grundutbildning

    Author : Abdullah Al-Ani; [2022]
    Keywords : DMD; Dp71; glioblastoma; Lamin B1; cell migration;

    Abstract : The Dp71 protein is the most expressed product of the DMD gene in the nervous system. Mutation in the region codes dystrophin protein (Dp71) linked to cognitive disturbances in Duchenne muscular dystrophy (DMD) patients. There is growing evidence that the gene is contributing to the development of Central Nervous System related cancers. READ MORE

  5. 4. Exploring genotype to phenotype correlations in Duchenne muscular dystrophy

    University essay from KTH/Skolan för bioteknologi (BIO)

    Author : Camilla Johansson; [2017]
    Keywords : ;

    Abstract : .... READ MORE

  6. 5. Assessing the ability of LARGE overexpression to prevent the development of muscular dystrophy

    University essay from SLU/Dept. of Biomedical Sciences and Veterinary Public Health

    Author : Astrid Rudberg; [2014]
    Keywords : duchenne muscular dystrophy; muscular dystrophy; prevention; LARGE; mdx; mouse model; duchenne muskulär dystrofi; förhindra; musmodell;

    Abstract : Duchenne Muscular Dystrophy (DMD) is a hereditary X-linked fatal disease that affects 1 in 3500 male births. It is the most common kind of muscular dystrophy in children and leads to death in the late teens or early 20s for many patients. The mdx mouse is a model of DMD that can be used to investigate experimental therapies. READ MORE