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

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Lehti	Neuromuscular Disorders
Vuosikerta	25
Numero	11
Sivut	835-842
Sivumäärä	8
ISSN	0960-8966
DOI - pysyväislinkit	https://doi.org/10.1016/j.nmd.2015.07.014
Tila	Julkaistu - marrask. 2015
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

3112 Neurotieteet

Pääsy asiakirjaan

10.1016/j.nmd.2015.07.014

Novel mutations in DNAJB6Lopullinen julkaistu versio, 2,06 MB

Siteeraa tätä

@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 -