Search for dissertations about: "TPM2"

Found 3 swedish dissertations containing the word TPM2.

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 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

5. 3. 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