Recent advances in nemaline myopathy.
Clinical
Congenital myopathy
Functional
Genetics
Nemaline (rod) myopathy
Pathogenesis
Journal
Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
received:
03
07
2021
revised:
14
07
2021
accepted:
16
07
2021
pubmed:
26
9
2021
medline:
3
2
2022
entrez:
25
9
2021
Statut:
ppublish
Résumé
The nemaline myopathies constitute a large proportion of the congenital or structural myopathies. Common to all patients is muscle weakness and the presence in the muscle biopsy of nemaline rods. The causative genes are at least twelve, encoding structural or regulatory proteins of the thin filament, and the clinical picture as well as the histological appearance on muscle biopsy vary widely. Here, we suggest a renewed clinical classification to replace the original one, summarise what is known about the pathogenesis from mutations in each causative gene to the forms of nemaline myopathy described to date, and provide perspectives on pathogenetic mechanisms possibly open to therapeutic modalities.
Identifiants
pubmed: 34561123
pii: S0960-8966(21)00198-X
doi: 10.1016/j.nmd.2021.07.012
pii:
doi:
Substances chimiques
Actins
0
Muscle Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
955-967Informations de copyright
Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declarations of Competing Interest None.