Neuromuscular disease: 2021 update.
5q-SMA
Amyloidosis
COVID-19
Costameres
Gene therapy
Guillain-Barré syndrome
Large-scale electron microscopy
Lobulated fibers
Perilipin 4
SMALED
Sarcolemmal repair
Sarcomeres
Satellite cell activation
Supervillin
TRIM72
Vacuolar myopathy
Vasculitis
Journal
Free neuropathology
ISSN: 2699-4445
Titre abrégé: Free Neuropathol
Pays: Germany
ID NLM: 101768755
Informations de publication
Date de publication:
Jan 2021
Jan 2021
Historique:
received:
05
02
2021
accepted:
22
02
2021
medline:
23
2
2021
pubmed:
23
2
2021
entrez:
7
6
2023
Statut:
epublish
Résumé
This review highlights ten important advances in the neuromuscular disease field that were first reported in 2020. The overarching topics include (i) advances in understanding of fundamental neuromuscular biology; (ii) new / emerging diseases; (iii) advances in understanding of disease etiology and pathogenesis; (iv) diagnostic advances; and (v) therapeutic advances. Within this broad framework, the individual disease entities that are discussed in more detail include neuromuscular complications of COVID-19, supervillin-deficient myopathy, 19p13.3-linked distal myopathy, vasculitic neuropathy due to eosinophilic granulomatosis with polyangiitis, spinal muscular atrophy, idiopathic inflammatory myopathies, and transthyretin neuropathy/myopathy. In addition, the review highlights several other advances (such as the revised view of the myofibrillar architecture, new insights into molecular and cellular mechanisms of muscle regeneration, and development of new electron microscopy tools) that will likely have a significant impact on the overall neuromuscular disease field going forward.
Identifiants
pubmed: 37284616
doi: 10.17879/freeneuropathology-2021-3236
pmc: PMC10209996
pii:
doi:
Types de publication
Journal Article
Langues
eng
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