Distinct disease phases in muscles of facioscapulohumeral dystrophy patients identified by MR detected fat infiltration.
Facioscapulohumeral muscular dystrophy (FSHD) is an untreatable disease, characterized by asymmetric progressive weakness of skeletal muscle with fatty infiltration. Although the main genetic defect has been uncovered, the downstream mechanisms causing FSHD are not understood. The objective of this...
Guardado en:
Autores principales: | Barbara H Janssen, Nicoline B M Voet, Christine I Nabuurs, Hermien E Kan, Jacky W J de Rooy, Alexander C Geurts, George W Padberg, Baziel G M van Engelen, Arend Heerschap |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Public Library of Science (PLoS)
2014
|
Materias: | |
Acceso en línea: | https://doaj.org/article/9c41ae2c80b64b588942b7eadbec58ea |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle
por: Christopher R. S. Banerji, et al.
Publicado: (2017) -
Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1).
por: Anna Pakula, et al.
Publicado: (2013) -
Progressive myocardial injury in myotonic dystrophy type II and facioscapulohumeral muscular dystrophy 1: a cardiovascular magnetic resonance follow-up study
por: Edyta Blaszczyk, et al.
Publicado: (2021) -
CRISPR mediated targeting of DUX4 distal regulatory element represses DUX4 target genes dysregulated in Facioscapulohumeral muscular dystrophy
por: Sunny Das, et al.
Publicado: (2021) -
Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis
por: Giulia Ricci, et al.
Publicado: (2020)