Update on the genetics of congenital myopathies

Research output: Contribution to journalReview ArticleScientificpeer-review

Abstract

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.
Original languageEnglish
JournalSeminars in pediatric neurology.
Volume29
Pages (from-to)12-22
Number of pages11
ISSN1071-9091
DOIs
Publication statusPublished - Apr 2019
MoE publication typeA2 Review article in a scientific journal

Fields of Science

  • 3112 Neurosciences
  • 3124 Neurology and psychiatry
  • 3123 Gynaecology and paediatrics
  • ALPHA-ACTIN GENE
  • LINKED MYOTUBULAR MYOPATHY
  • RYANODINE RECEPTOR GENE
  • KLHL40-RELATED NEMALINE MYOPATHY
  • GENOTYPE-PHENOTYPE CORRELATIONS
  • MULTIPLE PTERYGIUM SYNDROME
  • RECESSIVE RYR1 MUTATIONS
  • CENTRAL CORE DISEASE
  • CENTRONUCLEAR MYOPATHY
  • SELENOPROTEIN-N

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