Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods

Mutations in ACTA1 cause a group of myopathies with expanding clinical and histopathological heterogeneity. We describe three patients with severe ACTA1-related myopathy who have muscle fiber cytoplasmic bodies but no classic nemaline rods. Patient 1 is a five-year-old boy who presented at birth wit...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Neuromuscul Disord
Main Authors: Donkervoort, Sandra, Chan, Sophelia H.S., Hayes, Leslie H., Bradley, Nathaniel, Nguyen, David, Leach, Meganne E., Mohassel, Payam, Hu, Ying, Thangarajh, Mathula, Bharucha-Goebel, Diana, Kan, Amanda, Ho, Ronnie S.L., Reyes, Christine A., Nance, Jessica, Moore, Steven A., Foley, A. Reghan, Bönnemann, Carsten G.
Format: Artigo
Jezik:Inglês
Izdano: 2017
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5918412/
https://ncbi.nlm.nih.gov/pubmed/28416349
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2017.02.012
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki