Update on the genetics of congenital myopathies

Katarina Pelin, Carina Wallgren-Pettersson

Forskningsoutput: TidskriftsbidragÖversiktsartikelPeer review


The congenital myopathies form a large clinically and genetically heterogeneous group of disorders. Currently mutations in at least 27 different genes have been reported to cause a congenital myopathy, but the number is expected to increase due to the accelerated use of next-generation sequencing methods. There is substantial overlap between the causative genes and the clinical and histopathologic features of the congenital myopathies. The mode of inheritance can be auto-somal recessive, autosomal dominant or X-linked. Both dominant and recessive mutations in the same gene can cause a similar disease phenotype, and the same clinical phenotype can also be caused by mutations in different genes. Clear genotype-phenotype correlations are few and far between. (C) 2019 Elsevier Inc. All rights reserved.
TidskriftSeminars in pediatric neurology.
Sidor (från-till)12-22
Antal sidor11
StatusPublicerad - apr. 2019
MoE-publikationstypA2 Granska artikel i en vetenskaplig tidskrift


  • 3112 Neurovetenskaper
  • 3124 Neurologi och psykiatri
  • 3123 Kvinno- och barnsjukdomar

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