Article
[Dysferlinopathy. Example of a new myopathy].
Bulletin de l'Academie nationale de medecine - 1 Jan 2002
Serratrice Georges, Pellissier Jean-François, N'Guyen Varin, Attarian Sharham, Pouget Jean
Abstract excerpt
Over the past 10 years, the impact of modern microscopic pathology and molecular genetics on the knowledge of myopathies has been enormous. Dysferlinopathy is a good example. Dysferlin is a surface membrane protein without homology with known mammalian protein excepted otoferlin. It is encoded by a gene on chromosome 2. Miyoshi myopathy and limb girdle muscular dystrophy 2B have been reported to arise from...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
