Abstrakti

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.
Alkuperäiskielienglanti
LehtiSeminars in pediatric neurology.
Vuosikerta29
Sivut12-22
Sivumäärä11
ISSN1071-9091
DOI - pysyväislinkit
TilaJulkaistu - huhtikuuta 2019
OKM-julkaisutyyppiA2 Katsausartikkeli tieteellisessä aikakauslehdessä

Tieteenalat

  • 3112 Neurotieteet
  • 3124 Neurologia ja psykiatria
  • 3123 Naisten- ja lastentaudit

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