title: Congenital myopathies: not only a paediatric topic.
abstract: This article reviews adult presentations of the major congenital myopathies - central core disease, multiminicore disease, centronuclear myopathy and nemaline myopathy - with an emphasis on common genetic backgrounds, typical clinicopathological features and differential diagnosis.
  
  
  
  The congenital myopathies are a genetically heterogeneous group of conditions with characteristic histopathological features. Although essentially considered paediatric conditions, some forms - in particular those due to dominant mutations in the skeletal muscle ryanodine receptor (RYR1), the dynamin 2 (DNM2), the amphiphysin 2 (BIN1) and the Kelch repeat-and BTB/POZ domain-containing protein 13 (KBTBD13) gene - may present late into adulthood. Moreover, dominant RYR1 mutations associated with the malignant hyperthermia susceptibility trait have been recently identified as a common cause of (exertional) rhabdomyolysis presenting throughout life. In addition, improved standards of care and development of new therapies will result in an increasing number of patients with early-onset presentations transitioning to the adult neuromuscular clinic. Lastly, if nemaline rods are the predominant histopathological feature, acquired treatable conditions have to be considered in the differential diagnosis.
  
  
  
  Recently identified genotypes and phenotypes indicate a spectrum of the congenital myopathies extending into late adulthood, with important implications for clinical practice.
authors.affiliation: aDepartment of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust bRandall Division of Cell and Molecular Biophysics, Muscle Signalling Section cDepartment of Clinical and Basic Neuroscience, IoPPN, King's College, London, UK dDepartment of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: Heinz
authors.initials: H
authors.lastname: Jungbluth
authors.forename: Nicol C
authors.initials: NC
authors.lastname: Voermans
mesh_terms: D005838:Genotype; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel