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...

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Bibliografski detalji
Izdano u:Front Neurol
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2017
Teme:
Neuroscience
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5534468/
https://ncbi.nlm.nih.gov/pubmed/28824526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2017.00367
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