X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant
Year of publication
2020
Authors
Kraatari, M.; Tuominen, H.; Tuupanen, S.; Haapaniemi, T.; Moilanen, J.; Rahikkala, E.
Organizations and authors
University of Oulu
Moilanen Jukka 
Publication type
Publication format
Article
Parent publication type
Journal
Article type
Original article
Audience
ScientificPeer-reviewed
Peer-ReviewedMINEDU's publication type classification code
A1 Journal article (refereed), original researchPublication channel information
Issue
11
Article number
104040
ISSN
Publication forum
Publication forum level
1
Open access
Open access in the publisher’s service
No information
Self-archived
No
Other information
Fields of science
Biomedicine; Neurology and psychiatry
Keywords
[object Object],[object Object],[object Object],[object Object],[object Object]
Publication country
France
Internationality of the publisher
International
Language
English
International co-publication
No
Co-publication with a company
Yes
DOI
10.1016/j.ejmg.2020.104040
The publication is included in the Ministry of Education and Culture’s Publication data collection
Yes