DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies

Mutations in the DNAJB6 gene have been associated with the autosomal dominant limb girdle muscular dystrophy type 1D (LGMD1D), a disorder characterized by abnormal protein aggregates and rimmed vacuoles in muscle fibers. DNAJB6 is a ubiquitously expressed Hsp40 co-chaperone characterized by a J doma...

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Bibliographic Details
Main Authors: Ruggieri, Alessandra, Saredi, Simona, Zanotti, Simona, Pasanisi, Maria Barbara, Maggi, Lorenzo, Mora, Marina
Format: Online
Language:English
Published: Frontiers Media S.A. 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043021/