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

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Artikelnummer	619
Tidskrift	Neurology Genetics
Volym	7
Nummer	5
Antal sidor	5
ISSN	2376-7839
DOI	https://doi.org/10.1212/NXG.0000000000000619
Status	Publicerad - okt. 2021
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3111 Biomedicinska vetenskaper
1184 Genetik, utvecklingsbiologi, fysiologi

Åtkomst av dokument

10.1212/NXG.0000000000000619

e619.fullSlutlig publicerad version, 472 KBLicens: CC BY

Citera det här

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), [619]. https://doi.org/10.1212/NXG.0000000000000619

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

keywords = "3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

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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doi = "10.1212/NXG.0000000000000619",

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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

VL - 7

JO - Neurology Genetics

JF - Neurology Genetics

SN - 2376-7839

IS - 5

M1 - 619

ER -