Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness

Marco Savarese; Anna Vihola; Manu E. Jokela; Sanna Pauliina Huovinen; Simonetta Gerevini; Annalaura Torella; Mridul Johari; Marina Scarlato; Per Harald Jonson; Maria Elena Onore; Peter Hackman; Mathias Gautel; Vincenzo Nigro; Stefano Carlo Previtali; Bjarne Udd

doi:10.1212/NXG.0000000000000619

Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness

Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

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

Original language	English
Article number	619
Journal	Neurology Genetics
Volume	7
Issue number	5
Number of pages	5
ISSN	2376-7839
DOIs	https://doi.org/10.1212/NXG.0000000000000619
Publication status	Published - Oct 2021
MoE publication type	A1 Journal article-refereed

Fields of Science

3111 Biomedicine
1184 Genetics, developmental biology, physiology

Access to Document

10.1212/NXG.0000000000000619

e619.fullFinal published version, 472 KBLicence: CC BY

Cite this

Savarese, M., Vihola, A., Jokela, M. E., Huovinen, S. P., Gerevini, S., Torella, A., Johari, M., Scarlato, M., Jonson, P. H., Onore, M. E., Hackman, P., Gautel, M., Nigro, V., Previtali, S. C., & Udd, B. (2021). Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness. Neurology Genetics, 7(5), Article 619. https://doi.org/10.1212/NXG.0000000000000619

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author = "Marco Savarese and Anna Vihola and Jokela, {Manu E.} and Huovinen, {Sanna Pauliina} and Simonetta Gerevini and Annalaura Torella and Mridul Johari and Marina Scarlato and Jonson, {Per Harald} and Onore, {Maria Elena} and Peter Hackman and Mathias Gautel and Vincenzo Nigro and Previtali, {Stefano Carlo} and Bjarne Udd",

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T1 - Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness

AU - Savarese, Marco

AU - Vihola, Anna

AU - Jokela, Manu E.

AU - Huovinen, Sanna Pauliina

AU - Gerevini, Simonetta

AU - Torella, Annalaura

AU - Johari, Mridul

AU - Scarlato, Marina

AU - Jonson, Per Harald

AU - Onore, Maria Elena

AU - Hackman, Peter

AU - Gautel, Mathias

AU - Nigro, Vincenzo

AU - Previtali, Stefano Carlo

AU - Udd, Bjarne

PY - 2021/10

Y1 - 2021/10

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1212/NXG.0000000000000619

DO - 10.1212/NXG.0000000000000619

M3 - Article

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VL - 7

JO - Neurology Genetics

JF - Neurology Genetics

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