Neuromuscular diseases: muscleCongenital myopathiesLaing, Nigel GAuthor Information Centre for Medical Research, University of Western Australia and Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia Correspondence to Nigel G. Laing, Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Hovea Lane, Nedlands, Western Australia 6009, Australia Tel: +61 8 9346 4611; fax: +61 8 9346 1818; e-mail: email@example.com Current Opinion in Neurology: October 2007 - Volume 20 - Issue 5 - p 583-589 doi: 10.1097/WCO.0b013e3282ef6e69 Buy Metrics Abstract Purpose of review The aim of this review is to provide an up-to-date personal analysis of current congenital myopathy research. Recent findings In the past year novel congenital myopathies have been suggested, genes have been discovered for some of the congenital myopathies for the first time (β-tropomyosin in cap disease and perhaps skeletal muscle α-actin in Zebra body myopathy), further genes have been identified for congenital myopathies where other genes had already been found (cofilin in nemaline myopathy, selenoprotein N in congenital fibre type disproportion) and recessive myosin storage myopathy was associated with homozygous mutation of slow-skeletal/β-cardiac myosin which was already known to be mutated in dominant myosin storage myopathy. There has been further clarification of the pathobiology of the congenital myopathies, including determination of the basis of epigenetic effects: silencing of the normal allele in recessive central core disease and persistence of cardiac (fetal) α-actin in nemaline myopathy patients with no skeletal actin. Summary The increased understanding of the genes and pathobiology of the congenital myopathies that is developing should ultimately lead to effective treatments. © 2007 Lippincott Williams & Wilkins, Inc.