SEPN1: Associated with congenital fiber-type disproportion and insulin resistance
β Scribed by Nigel F. Clarke; Warren Kidson; Susana Quijano-Roy; Brigitte Estournet; Ana Ferreiro; Pascale Guicheney; James I. Manson; Andrew J. Kornberg; Lloyd K. Shield; Kathryn N. North
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 196 KB
- Volume
- 59
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Congenital fiber type disproportion (CFTD) is a rare congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence of type 1 fiber hypotrophy of at least 12% in the absence of other notable pathological findings. Mutations of th
## Abstract Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by loss of immunologic selfβtolerance and the subsequent development of autoantibodies. These antibodies are thought to be important in relation to the clinical manifestations of the disease. One example is the de