Kuvaus

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 - 2019
OKM-julkaisutyyppiA2 Katsausartikkeli tieteellisessä aikakauslehdessä

Tieteenalat

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

Lainaa tätä

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title = "Update on the genetics of congenital myopathies",
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.",
keywords = "3112 Neurosciences, 3124 Neurology and psychiatry, 3123 Gynaecology and paediatrics",
author = "Katarina Pelin and Carina Wallgren-Pettersson",
year = "2019",
doi = "10.1016/j.spen.2019.01.005",
language = "English",
volume = "29",
pages = "12--22",
journal = "Seminars in pediatric neurology.",
issn = "1071-9091",
publisher = "W B SAUNDERS CO-ELSEVIER INC",

}

Update on the genetics of congenital myopathies. / Pelin, Katarina; Wallgren-Pettersson, Carina.

julkaisussa: Seminars in pediatric neurology., Vuosikerta 29, 2019, s. 12-22.

Tutkimustuotos: ArtikkelijulkaisuKatsausartikkeliTieteellinenvertaisarvioitu

TY - JOUR

T1 - Update on the genetics of congenital myopathies

AU - Pelin, Katarina

AU - Wallgren-Pettersson, Carina

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

KW - 3123 Gynaecology and paediatrics

U2 - 10.1016/j.spen.2019.01.005

DO - 10.1016/j.spen.2019.01.005

M3 - Review Article

VL - 29

SP - 12

EP - 22

JO - Seminars in pediatric neurology.

JF - Seminars in pediatric neurology.

SN - 1071-9091

ER -