title: Congenital myopathies.
abstract: OBJECTIVE
  The aim of this review is to provide an up-to-date personal analysis of current congenital myopathy research.
  
  
  RESULTS
  In the past year novel congenital myopathies have been suggested, genes have been discovered for some of the congenital myopathies for the first time (beta-tropomyosin in cap disease and perhaps skeletal muscle alpha-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/beta-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) alpha-actin in nemaline myopathy patients with no skeletal actin.
  
  
  CONCLUSIONS
  The increased understanding of the genes and pathobiology of the congenital myopathies that is developing should ultimately lead to effective treatments.
authors: Centre for Medical Research, University of Western Australia and Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia. nlaing@cyllene.uwa.edu.au
authors: Nigel G
authors: NG
authors: Laing
mesh_terms: D044127:Epigenesis, Genetic / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008967:Molecular Biology / Q000639:trends; D009124:Muscle Proteins / Q000235:genetics; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000503:physiopathology; D009135:Muscular Diseases / Q000151:congenital* / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*
chemical_list: D009124:Muscle Proteins