Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features

OBJECTIVE: The aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on two different chromosomes; and to highlight...

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Bibliografiska uppgifter
I publikationen:Front Neurol
Huvudupphovsmän: Niu, Zhiyv, Pontifex, Carly Sabine, Berini, Sarah, Hamilton, Leslie E., Naddaf, Elie, Wieben, Eric, Aleff, Ross A., Martens, Kristina, Gruber, Angela, Engel, Andrew G., Pfeffer, Gerald, Milone, Margherita
Materialtyp: Artigo
Språk:Inglês
Publicerad: Frontiers Media S.A. 2018
Ämnen:
Neuroscience
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5868303/
https://ncbi.nlm.nih.gov/pubmed/29599744
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2018.00147
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