@article{150244c4e9264ceba9d8cc3b145bb708,
title = "'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D",
abstract = "We have previously reported clinical, genetic and molecular pathomechanistic findings in DNAJB6 mutated LGMD1D. After publishing clinical findings of the original Finnish family we identified more Finnish, Italian and US families with the same disease, ultimately confirmed by mutations in the same gene.",
keywords = "Adult, Aged, DNAJB6 myopathy, Female, Finland, HSP40 Heat-Shock Proteins, Humans, LGMD, LGMD1D, Magnetic Resonance Imaging, Male, Middle Aged, Molecular Chaperones, Muscle, Skeletal, Muscular Dystrophies, Limb-Girdle, Nerve Tissue Proteins, Pedigree, autosomal dominant LGMD, limb-girdle muscular dystrophy, Adult, Aged, DNAJB6 myopathy, Female, Finland, HSP40 Heat-Shock Proteins, Humans, LGMD, LGMD1D, Magnetic Resonance Imaging, Male, Middle Aged, Molecular Chaperones, Muscle, Skeletal, Muscular Dystrophies, Limb-Girdle, Nerve Tissue Proteins, Pedigree, autosomal dominant LGMD, limb-girdle muscular dystrophy",
author = "Sandell, {S. M.} and I. Mahjneh and J. Palmio and G. Tasca and Giorgio Tasca and Enzo Ricci and Udd, {B. A.}",
year = "2013",
doi = "10.1111/ene.12239",
language = "English",
volume = "20",
pages = "1553--1559",
journal = "European Journal of Neurology",
issn = "1468-1331",
publisher = "Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320",
}