Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Jaakko Sarparanta; Per Harald Jonson; Christelle Golzio; Satu Sandell; Helena Luque; O Raheem; Mark Screen; Kristin McDonald; Jeffrey Stajich; Ibrahim Mahjneh; Anna Vihola; Raheem Olayinka; Sini Penttilä; Sara Lehtinen; Sanna Huovinen; Johanna Palmio; Tasca Giorgio; Enzo Ricci; Peter Hackman; Michael Hauser; Nicholas Katsanis; Bjarne Udd

doi:10.1038/ng.1103

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Jaakko Sarparanta
, Per Harald Jonson
, Christelle Golzio
, Satu Sandell
, Helena Luque
, O Raheem
, Mark Screen
, Kristin McDonald
, Jeffrey Stajich
, Ibrahim Mahjneh
, Anna Vihola
, Raheem Olayinka
, Sini Penttilä
, Sara Lehtinen
, Sanna Huovinen
, Johanna Palmio
, Tasca Giorgio
, Enzo Ricci
, Peter Hackman
, Michael Hauser

Nicholas Katsanis, Bjarne Udd

Department of Pathology

Research output: Contribution to journal › Article › Scientific › peer-review

232 Citations (Scopus)

Original language	English
Pages (from-to)	450-455
Journal	Nature Genetics
Volume	44
Issue number	4
DOIs	https://doi.org/10.1038/ng.1103
Publication status	Published - 2012
Publication type	A1 Journal article-refereed

Publication forum classification

Publication forum level 3

Access to Document

10.1038/ng.1103

Cite this

Sarparanta, J., Jonson, P. H., Golzio, C., Sandell, S., Luque, H., Raheem, O., Screen, M., McDonald, K., Stajich, J., Mahjneh, I., Vihola, A., Olayinka, R., Penttilä, S., Lehtinen, S., Huovinen, S., Palmio, J., Giorgio, T., Ricci, E., Hackman, P., ... Udd, B. (2012). Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nature Genetics, 44(4), 450-455. https://doi.org/10.1038/ng.1103

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title = "Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy",

author = "Jaakko Sarparanta and Jonson, \{Per Harald\} and Christelle Golzio and Satu Sandell and Helena Luque and O Raheem and Mark Screen and Kristin McDonald and Jeffrey Stajich and Ibrahim Mahjneh and Anna Vihola and Raheem Olayinka and Sini Penttil{\"a} and Sara Lehtinen and Sanna Huovinen and Johanna Palmio and Tasca Giorgio and Enzo Ricci and Peter Hackman and Michael Hauser and Nicholas Katsanis and Bjarne Udd",

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doi = "10.1038/ng.1103",

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volume = "44",

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Sarparanta, J, Jonson, PH, Golzio, C, Sandell, S, Luque, H, Raheem, O, Screen, M, McDonald, K, Stajich, J, Mahjneh, I, Vihola, A, Olayinka, R, Penttilä, S, Lehtinen, S, Huovinen, S, Palmio, J, Giorgio, T, Ricci, E, Hackman, P, Hauser, M, Katsanis, N & Udd, B 2012, 'Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy', Nature Genetics, vol. 44, no. 4, pp. 450-455. https://doi.org/10.1038/ng.1103

TY - JOUR

T1 - Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

AU - Sarparanta, Jaakko

AU - Jonson, Per Harald

AU - Golzio, Christelle

AU - Sandell, Satu

AU - Luque, Helena

AU - Raheem, O

AU - Screen, Mark

AU - McDonald, Kristin

AU - Stajich, Jeffrey

AU - Mahjneh, Ibrahim

AU - Vihola, Anna

AU - Olayinka, Raheem

AU - Penttilä, Sini

AU - Lehtinen, Sara

AU - Huovinen, Sanna

AU - Palmio, Johanna

AU - Giorgio, Tasca

AU - Ricci, Enzo

AU - Hackman, Peter

AU - Hauser, Michael

AU - Katsanis, Nicholas

AU - Udd, Bjarne

PY - 2012

Y1 - 2012

U2 - 10.1038/ng.1103

DO - 10.1038/ng.1103

M3 - Article

SN - 1061-4036

VL - 44

SP - 450

EP - 455

JO - Nature Genetics

JF - Nature Genetics

IS - 4

ER -