Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

Johanna Palmio; Per Harald Jonson; Anni Evilä; Mari Auranen; Volker Straub; Kate Bushby; Anna Sarkozy; Sari Kiuru-Enari; Satu Sandell; Helena Pihko; Peter Hackman; Bjarne Udd

doi:10.1016/j.nmd.2015.07.014

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

Johanna Palmio, Per Harald Jonson, Anni Evilä, Mari Auranen, Volker Straub, Kate Bushby, Anna Sarkozy, Sari Kiuru-Enari, Satu Sandell, Helena Pihko, Peter Hackman, Bjarne Udd

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Neuromuscular Disorders
Volym	25
Nummer	11
Sidor (från-till)	835-842
Antal sidor	8
ISSN	0960-8966
DOI	https://doi.org/10.1016/j.nmd.2015.07.014
Status	Publicerad - nov. 2015
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3112 Neurovetenskaper

Åtkomst av dokument

10.1016/j.nmd.2015.07.014

Novel mutations in DNAJB6Slutlig publicerad version, 2,06 MB

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@article{0c158bb83ce54fcba5f2cdcf950e2e0d,

title = "Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease",

keywords = "Limb-girdle muscular dystrophy, DNAJB6 gene, Childhood-onset, SEQUENCING DATA, MYOPATHY, VARIANTS, 3112 Neurosciences",

author = "Johanna Palmio and Jonson, {Per Harald} and Anni Evil{\"a} and Mari Auranen and Volker Straub and Kate Bushby and Anna Sarkozy and Sari Kiuru-Enari and Satu Sandell and Helena Pihko and Peter Hackman and Bjarne Udd",

year = "2015",

month = nov,

doi = "10.1016/j.nmd.2015.07.014",

language = "English",

volume = "25",

pages = "835--842",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Scientific Publ. Co",

number = "11",

}

TY - JOUR

T1 - Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

AU - Palmio, Johanna

AU - Jonson, Per Harald

AU - Evilä, Anni

AU - Auranen, Mari

AU - Straub, Volker

AU - Bushby, Kate

AU - Sarkozy, Anna

AU - Kiuru-Enari, Sari

AU - Sandell, Satu

AU - Pihko, Helena

AU - Hackman, Peter

AU - Udd, Bjarne

PY - 2015/11

Y1 - 2015/11

KW - Limb-girdle muscular dystrophy

KW - DNAJB6 gene

KW - Childhood-onset

KW - SEQUENCING DATA

KW - MYOPATHY

KW - VARIANTS

KW - 3112 Neurosciences

U2 - 10.1016/j.nmd.2015.07.014

DO - 10.1016/j.nmd.2015.07.014

M3 - Article

VL - 25

SP - 835

EP - 842

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 11

ER -