Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

Marco Savarese, Johanna Palmio, Juan Jose Poza, Jan Weinberg, Montse Olive, Ana Maria Cobo, Anna Vihola, Per Harald Jonson, Jaakko Sarparanta, Federico Garcia-Bragado, Jon Andoni Urtizberea, Peter Hackman, Bjarne Udd

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalAnnals of Neurology
Volume85
Issue number6
Pages (from-to)899-906
Number of pages8
ISSN0364-5134
DOIs
Publication statusPublished - Jun 2019
MoE publication typeA1 Journal article-refereed

Fields of Science

  • ALPHA-ACTININ
  • PROTEIN
  • ALPHA-ACTININ-2
  • CARDIOMYOPATHY
  • DOMAIN
  • GENES
  • 3111 Biomedicine
  • 3112 Neurosciences
  • 3124 Neurology and psychiatry

Cite this

Savarese, Marco ; Palmio, Johanna ; Poza, Juan Jose ; Weinberg, Jan ; Olive, Montse ; Cobo, Ana Maria ; Vihola, Anna ; Jonson, Per Harald ; Sarparanta, Jaakko ; Garcia-Bragado, Federico ; Urtizberea, Jon Andoni ; Hackman, Peter ; Udd, Bjarne. / Actininopathy : A new muscular dystrophy caused by ACTN2 dominant mutations. In: Annals of Neurology. 2019 ; Vol. 85, No. 6. pp. 899-906.
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title = "Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations",
keywords = "ALPHA-ACTININ, PROTEIN, ALPHA-ACTININ-2, CARDIOMYOPATHY, DOMAIN, GENES, 3111 Biomedicine, 3112 Neurosciences, 3124 Neurology and psychiatry",
author = "Marco Savarese and Johanna Palmio and Poza, {Juan Jose} and Jan Weinberg and Montse Olive and Cobo, {Ana Maria} and Anna Vihola and Jonson, {Per Harald} and Jaakko Sarparanta and Federico Garcia-Bragado and Urtizberea, {Jon Andoni} and Peter Hackman and Bjarne Udd",
year = "2019",
month = "6",
doi = "10.1002/ana.25470",
language = "English",
volume = "85",
pages = "899--906",
journal = "Annals of Neurology",
issn = "0364-5134",
publisher = "Wiley",
number = "6",

}

Savarese, M, Palmio, J, Poza, JJ, Weinberg, J, Olive, M, Cobo, AM, Vihola, A, Jonson, PH, Sarparanta, J, Garcia-Bragado, F, Urtizberea, JA, Hackman, P & Udd, B 2019, 'Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations', Annals of Neurology, vol. 85, no. 6, pp. 899-906. https://doi.org/10.1002/ana.25470

Actininopathy : A new muscular dystrophy caused by ACTN2 dominant mutations. / Savarese, Marco; Palmio, Johanna; Poza, Juan Jose; Weinberg, Jan; Olive, Montse; Cobo, Ana Maria; Vihola, Anna; Jonson, Per Harald; Sarparanta, Jaakko; Garcia-Bragado, Federico; Urtizberea, Jon Andoni; Hackman, Peter; Udd, Bjarne.

In: Annals of Neurology, Vol. 85, No. 6, 06.2019, p. 899-906.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Actininopathy

T2 - A new muscular dystrophy caused by ACTN2 dominant mutations

AU - Savarese, Marco

AU - Palmio, Johanna

AU - Poza, Juan Jose

AU - Weinberg, Jan

AU - Olive, Montse

AU - Cobo, Ana Maria

AU - Vihola, Anna

AU - Jonson, Per Harald

AU - Sarparanta, Jaakko

AU - Garcia-Bragado, Federico

AU - Urtizberea, Jon Andoni

AU - Hackman, Peter

AU - Udd, Bjarne

PY - 2019/6

Y1 - 2019/6

KW - ALPHA-ACTININ

KW - PROTEIN

KW - ALPHA-ACTININ-2

KW - CARDIOMYOPATHY

KW - DOMAIN

KW - GENES

KW - 3111 Biomedicine

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

U2 - 10.1002/ana.25470

DO - 10.1002/ana.25470

M3 - Article

VL - 85

SP - 899

EP - 906

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

IS - 6

ER -