Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury

Plectinopathies are orphan diseases caused by PLEC gene mutations. PLEC is encoding the protein plectin, playing a role in linking cytoskeleton components in various tissues. In this study, we describe the clinical case of a 26-year-old patient with an early onset plectinopathy variant “limb-girdle...

Descripción completa

Detalles Bibliográficos
Autores principales: Deev, Roman V., Bardakov, Sergei N., Mavlikeev, Mikhail O., Yakovlev, Ivan A., Umakhanova, Zoya R., Akhmedova, Patimat G., Magomedova, Raisat M., Chekmaryeva, Irina A., Dalgatov, Gimat D., Isaev, Artur A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5534468/
https://www.ncbi.nlm.nih.gov/pubmed/28824526
http://dx.doi.org/10.3389/fneur.2017.00367

Ejemplares similares

Ejemplares similares