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1. 1. Cellular and Molecular Mechanisms Underlying Congenital Myopathy-related Weakness

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

   Sammanfattning : 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. LÄS MER