title: Myofibrillar myopathies: new developments.
abstract: OBJECTIVE
  Myofibrillar myopathies (MFMs) are a heterogeneous group of skeletal and cardiac muscle diseases. In this review, we highlight recent discoveries of new genes and disease mechanisms involved in this group of disorders.
  
  
  RESULTS
  The advent of next-generation sequencing technology, laser microdissection and mass spectrometry-based proteomics has facilitated the discovery of new MFM causative genes and pathomechanisms. New mutations have also been discovered in 'older' genes, helping to find a classification niche for MFM-linked disorders showing variant phenotypes. Cell transfection experiments using primary cultured myoblasts and newer animal models provide insights into the pathogenesis of MFMs.
  
  
  CONCLUSIONS
  An increasing number of genes are involved in the causation of variant subtypes of MFM. The application of modern technologies in combination with classical histopathological and ultrastructural studies is helping to establish the molecular diagnosis and reach a better understanding of the pathogenic mechanisms of each MFM subtype, thus putting an emphasis on the development of specific means for prevention and therapy of these incapacitating and frequently fatal diseases.
authors.affiliation: Institute of Neuropathology, Department of Pathology, IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain. 25169mop@comb.cat
authors.forename: Montse
authors.initials: M
authors.lastname: Olivé
authors.forename: Rudolf A
authors.initials: RA
authors.lastname: Kley
authors.forename: Lev G
authors.initials: LG
authors.lastname: Goldfarb
mesh_terms: D000818:Animals; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D009154:Mutation / Q000235:genetics; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D010641:Phenotype
chemical_list: D009124:Muscle Proteins