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

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

https://trepo.tuni.fi/handle/10024/137208

http://www.urn.fi/URN:NBN:fi:tuni-202201271650

e619.full.pdf (Tampereen yliopisto - Trepo)

Artikkeli

Savarese, Marco ; Vihola, Anna ; Jokela, Manu E. ; Huovinen, Sanna Pauliina ; Gerevini, Simonetta ; Torella, Annalaura ; Johari, Mridul ; Scarlato, Marina ; Jonson, Per Harald ; Onore, Maria Elena ; Hackman, Peter ; Gautel, Mathias ; Nigro, Vincenzo ; Previtali, Stefano Carlo ; Udd, Bjarne ; Tampere University ; Clinical Medicine ; Department of Pathology ; Department of Neurosciences and Rehabilitation

2021

Tallennettuna:

Ulkoasu

484474

Kieli

englanti

Aiheet

3111 Biomedicine

3124 Neurology and psychiatry

Henkilökuntanäyttö