Signs and Symptoms in Congenital Myopathies.

Humans Mutation Myopathies, Structural, Congenital / diagnosis

Journal

Seminars in pediatric neurology
ISSN: 1558-0776
Titre abrégé: Semin Pediatr Neurol
Pays: United States
ID NLM: 9441351

Informations de publication

Date de publication:
04 2019
Historique:
entrez: 8 5 2019
pubmed: 8 5 2019
medline: 30 4 2020
Statut: ppublish

Résumé

Congenital myopathies (CM) represent a continuously growing group of disorders with a wide range of clinical and histopathologic presentations. The refinement and application of new technologies for genetic diagnosis have broadened our understanding of the genetic causes of CM. Our growing knowledge has revealed that there are no clear limits between each subgroup of CM, and thus the clinical overlap between genes has become more evident. The implementation of next generation sequencing has produced vast amounts of genomic data that may be difficult to interpret. With an increasing number of reports revealing variants of unknown significance, it is essential to support the genetic diagnosis with a well characterized clinical description of the patient. Phenotype-genotype correlation should be a priority at the moment of disclosing the genetic results. Thus, a detailed physical examination can provide us with subtle differences that are not only key in order to arrive at a correct diagnosis, but also in the characterization of new myopathies and candidate genes.

Identifiants

DOI: 10.1016/j.spen.2019.01.002 PMID: 31060723
pubmed: 31060723
pii: S1071-9091(19)30002-6
doi: 10.1016/j.spen.2019.01.002
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

3-11

Informations de copyright

Copyright © 2019 Elsevier Inc. All rights reserved.

Auteurs

Hernan D Gonorazky (HD)

Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.

James J Dowling (JJ)

Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Molecular Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.

Jonathan R Volpatti (JR)

Department of Molecular Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.

Jiri Vajsar (J)

Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address: jiri.vajsar@sickkids.ca.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Signs and Symptoms in Congenital Myopathies.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Signs and Symptoms in Congenital Myopathies.
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies musculaires › Myopathies congénitales structurales › Signs and Symptoms in Congenital Myopathies.