Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.
During the last 10 years several muscular dystrophies within the group of distal myopathies have been clarified as to the molecular genetic cause of the disease. Currently, the next steps are carried out to identify the molecular pathogenesis downstream of the gene defects. Some early ideas on what is going on in the muscle cells based on the defect proteins are emerging. However, in no single distal muscular dystrophy these efforts have yet reached the point where direct trials for therapy would have been launched, and in many distal dystrophies the causative gene is still lacking. When comparing the gene defects in the distal dystrophies with the more common proximal muscular dystrophies such as dystrophinopathies or limb-girdle muscular dystrophies, there is a striking difference: the genes for distal dystrophies encode sarcomere proteins whereas the genes for proximal dystrophies more often encode sarcolemmal proteins.
Udd
Bjarne
B
Department of Neurology, Tampere University Hospital and Vasa Central Hospital, University of Tampere Medical Scool, Finland. Bjarne.Udd@netikka.fi
D000818:Animals; D049310:Distal Myopathies / Q000235:genetics / Q000378:metabolism* / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D009124:Muscle Proteins / Q000737:chemistry / Q000235:genetics* / Q000502:physiology*; D012518:Sarcomeres / Q000737:chemistry* / Q000378:metabolism / Q000473:pathology*
D009124:Muscle Proteins