Search for dissertations about: "nemaline myopathy"

Found 2 swedish dissertations containing the words nemaline 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