Sökning: "Laing early-onset myopathy"

Hittade 1 avhandling innehållade orden Laing early-onset myopathy.

1. 1. Study the role of patient-specific mutations by genetic disease modeling : From gene to function; A study to understand muscles

   Författare :Martin Dahl-Halvarsson; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Muscles; Myosin; MYH7; Myosin storage myopathy; Laing early-onset myopathy; Drosophila; TOR1A; DYT1; HCM; heart disease;

   Sammanfattning : Many genetic diseases inherited in a dominant fashion have a complex pathological pattern. TOR1A mediated Dystonia-1 (DYT1) is an example of incomplete penetrance, affecting only a third of the carriers. LÄS MER