Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features

ObjectiveThe 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 th...

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Bibliographic Details
Main Authors: Zhiyv Niu, Carly Sabine Pontifex, Sarah Berini, Leslie E. Hamilton, Elie Naddaf, Eric Wieben, Ross A. Aleff, Kristina Martens, Angela Gruber, Andrew G. Engel, Gerald Pfeffer, Margherita Milone
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-03-01
Series:Frontiers in Neurology
Subjects:
distal myopathy
myofibrillar myopathy
respiratory insufficiency
rimmed vacuoles
SQSTM1
TIA1
Online Access:http://journal.frontiersin.org/article/10.3389/fneur.2018.00147/full

Internet

http://journal.frontiersin.org/article/10.3389/fneur.2018.00147/full

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