Limb Girdle Muscular Dystrophies.
Anoctamin 5
Calpain 3
Caveolin 3
Lamin A/C
Limb girdle muscular dystrophies
Journal
Neurologic clinics
ISSN: 1557-9875
Titre abrégé: Neurol Clin
Pays: United States
ID NLM: 8219232
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
entrez:
25
7
2020
pubmed:
25
7
2020
medline:
18
11
2020
Statut:
ppublish
Résumé
The limb girdle muscular dystrophies (LGMDs) are genetic muscle diseases with primary skeletal muscle involvement in persons with the ability to walk independently at some point in the disease course. They usually have increased creatine kinase levels along with patterns of fatty and fibrous deposition on muscle imaging and/or dystrophic features on muscle biopsy. Distinctive clinical features provide valuable diagnostic clues to the diagnosis and sometimes treatment of these disorders. The advent of gene and cell-based therapies; gene replacement, editing, and modulation; along with stem cell and small molecule therapies may significantly ameliorate clinical severity in the LGMDs.
Identifiants
pubmed: 32703463
pii: S0733-8619(20)30030-X
doi: 10.1016/j.ncl.2020.03.009
pii:
doi:
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
493-504Informations de copyright
Copyright © 2020 Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Disclosure J. Bockhorst has nothing to disclose. M. Wicklund has served on advisory boards, consulted for, and received research funding from Sarepta Therapeutics. He has consulted for ML Bio Solutions.