Update on the genetics of congenital myopathies

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http://hdl.handle.net/10138/317086

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Pelin , K & Wallgren-Pettersson , C 2019 , ' Update on the genetics of congenital myopathies ' , Seminars in pediatric neurology. , vol. 29 , pp. 12-22 . https://doi.org/10.1016/j.spen.2019.01.005

Title: Update on the genetics of congenital myopathies
Author: Pelin, Katarina; Wallgren-Pettersson, Carina
Contributor: University of Helsinki, Molecular and Integrative Biosciences Research Programme
University of Helsinki, Medicum
Date: 2019-04
Language: eng
Number of pages: 11
Belongs to series: Seminars in pediatric neurology.
ISSN: 1071-9091
URI: http://hdl.handle.net/10138/317086
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.
Subject: 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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