Mutations in the J domain of DNAJB6 cause dominant distal myopathy

Johanna Palmio; Per Harald Jonson; Michio Inoue; Jaakko Sarparanta; Rocio Bengoechea; Marco Savarese; Anna Vihola; Manu Jokela; Masanori Nakagawa; Satoru Noguchi; Montse Olivé; Marion Masingue; Emilia Kerty; Peter Hackman; Conrad C. Weihl; Ichizo Nishino; Bjarne Udd

doi:10.1016/j.nmd.2019.11.005

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

Johanna Palmio
, Per Harald Jonson
, Michio Inoue
, Jaakko Sarparanta
, Rocio Bengoechea
, Marco Savarese
, Anna Vihola
, Manu Jokela
, Masanori Nakagawa
, Satoru Noguchi
, Montse Olivé
, Marion Masingue
, Emilia Kerty
, Peter Hackman
, Conrad C. Weihl
, Ichizo Nishino
, Bjarne Udd

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

31 Citations (Scopus)

Original language	English
Pages (from-to)	38-46
Journal	NEUROMUSCULAR DISORDERS
Volume	30
Issue number	1
DOIs	https://doi.org/10.1016/j.nmd.2019.11.005
Publication status	Published - 2020
Publication type	A1 Journal article-refereed

Keywords

Chaperonopathy
DNAJB6 gene
Limb-girdle muscular dystrophy

Publication forum classification

Publication forum level 1

Access to Document

10.1016/j.nmd.2019.11.005

Cite this

Palmio, J., Jonson, P. H., Inoue, M., Sarparanta, J., Bengoechea, R., Savarese, M., Vihola, A., Jokela, M., Nakagawa, M., Noguchi, S., Olivé, M., Masingue, M., Kerty, E., Hackman, P., Weihl, C. C., Nishino, I., & Udd, B. (2020). Mutations in the J domain of DNAJB6 cause dominant distal myopathy. NEUROMUSCULAR DISORDERS, 30(1), 38-46. https://doi.org/10.1016/j.nmd.2019.11.005

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title = "Mutations in the J domain of DNAJB6 cause dominant distal myopathy",

keywords = "Chaperonopathy, DNAJB6 gene, Limb-girdle muscular dystrophy, Chaperonopathy, DNAJB6 gene, Limb-girdle muscular dystrophy",

author = "Johanna Palmio and Jonson, \{Per Harald\} and Michio Inoue and Jaakko Sarparanta and Rocio Bengoechea and Marco Savarese and Anna Vihola and Manu Jokela and Masanori Nakagawa and Satoru Noguchi and Montse Oliv{\'e} and Marion Masingue and Emilia Kerty and Peter Hackman and Weihl, \{Conrad C.\} and Ichizo Nishino and Bjarne Udd",

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doi = "10.1016/j.nmd.2019.11.005",

language = "English",

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T1 - Mutations in the J domain of DNAJB6 cause dominant distal myopathy

AU - Palmio, Johanna

AU - Jonson, Per Harald

AU - Inoue, Michio

AU - Sarparanta, Jaakko

AU - Bengoechea, Rocio

AU - Savarese, Marco

AU - Vihola, Anna

AU - Jokela, Manu

AU - Nakagawa, Masanori

AU - Noguchi, Satoru

AU - Olivé, Montse

AU - Masingue, Marion

AU - Kerty, Emilia

AU - Hackman, Peter

AU - Weihl, Conrad C.

AU - Nishino, Ichizo

AU - Udd, Bjarne

PY - 2020

Y1 - 2020

KW - Chaperonopathy

KW - DNAJB6 gene

KW - Limb-girdle muscular dystrophy

KW - Chaperonopathy

KW - DNAJB6 gene

KW - Limb-girdle muscular dystrophy

U2 - 10.1016/j.nmd.2019.11.005

DO - 10.1016/j.nmd.2019.11.005

M3 - Article

SN - 0960-8966

VL - 30

SP - 38

EP - 46

JO - NEUROMUSCULAR DISORDERS

JF - NEUROMUSCULAR DISORDERS

IS - 1

ER -