Search for dissertations about: "congenital myopathy"

Found 5 swedish dissertations containing the words congenital myopathy.

  2. 1. Muscle diseases with damaged sarcomeres - causes and consequences

    Author : Monica Ohlsson; Göteborgs universitet; []
    Keywords : congenital myopathy; nemaline myopathy; cap disease; hereditary myopathy with early respiratory failure; myofibrillar myopathy; ACTA1; TPM2; TPM3; TTN;

    Abstract : Muscle diseases, also called myopathies, are usually defined as diseases where the pathology is confined to the muscle itself. This excludes diseases caused by structural abnormalities in the peripheral nerve, from the anterior horn cell to the neuromuscular junction. READ MORE

  4. 2. Cellular and Molecular Mechanisms Underlying Congenital Myopathy-related Weakness

    Author : Johan Lindqvist; Julien Ochala; Anders Arner; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; skeletal muscle; skeletal muscle contraction; atrophy; nemaline myopathy; myofibrillar myopathy; myosin; actin;

    Abstract : Congenital myopathies are a rare and heterogeneous group of diseases. They are primarily characterised by skeletal muscle weakness and disease-specific pathological features. They harshly limit ordinary life and in severe cases, these myopathies are associated with early death of the affected individuals. READ MORE

  5. 3. Neuromuscular disorders in childhood. Epidemiology and characterization of a new myopathy

    Author : Niklas Darin; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neuromuscular disorders; epidemiology; mitochondrial encephalomyopathy; hereditary inclusion-body myopathy; myosin heavy-chain IIa; childhood;

    Abstract : Neuromuscular disorders can be subdivided into anterior horn cell disorders, neuropathies, myasthenic disorders and myopathies. Some multisystem disorders, such as myotonic dystrophy and mitochondrial encephalomyopathies, are traditionally also included. READ MORE

  6. 4. Cellular studies of neuromuscular disorders related to the sarcomeric proteins

    Author : Saba Abdul-Hussein; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; myogenesis; myoblast; sarcomeric myopathy; TPM2; TRIM54; TRIM63;

    Abstract : Sarcomere is the basic unit of cardiac and skeletal muscle contraction and its proper function requires an invariant organization of this structure. Mutations in sarcomeric proteins are known to cause increasing number of different cardiac and skeletal muscle diseases. READ MORE

  7. 5. Arthrogryposis. Causes, Consequences and Clinical Course in Amyoplasia and Distal Arthrogryposis

    Author : Eva Kimber; Göteborgs universitet; []
    Keywords : arthrogryposis; amyoplasia; distal arthrogryposis; muscle involvement; motor function; contractures; muscle morphology; sarcomeric protein dysfunction;

    Abstract : Arthrogryposis Causes, Consequences and Clinical Course in Amyoplasia and Distal Arthrogryposis Background. Arthrogryposis Multiplex Congenita, AMC, is a heterogeneous condition defined as multiple congenital joint contractures in two or more body areas. The pathogenesis is impaired fetal movements. READ MORE