Article
The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2.
Human genetics - 1 Sept 2003
Tiret Laurent, Blot Stéphane, Kessler Jean-Louis, Gaillot Hugues, Breen Matthew, Panthier Jean-Jacques
Abstract excerpt
Myotubular/centronuclear myopathies are a nosological group of hereditary disorders characterised by severe architectural and metabolic remodelling of skeletal muscle fibres. In most myofibres, nuclei are found at an abnormal central position within a halo devoid of myofibrillar proteins. The X-linked form (myotubular myopathy) is the most prevalent and severe form in human, leading to death during early...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.