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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Principais autores:	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
格式:	Artigo
語言:	Inglês
出版:	Frontiers Media S.A. 2018-03-01
叢編:	Frontiers in Neurology
主題:	distal myopathy myofibrillar myopathy respiratory insufficiency rimmed vacuoles SQSTM1 TIA1
在線閱讀:	http://journal.frontiersin.org/article/10.3389/fneur.2018.00147/full
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