Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

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dc.contributor.authorValérie Biancalana
dc.contributor.authorNorma B. Romero
dc.contributor.authorInger Johanne Thuestad
dc.contributor.authorJaakko Ignatius
dc.contributor.authorJanne Kataja
dc.contributor.authorMaria Gardberg
dc.contributor.authorDelphine Héron
dc.contributor.authorEdoardo Malfatti
dc.contributor.authorAnders Oldfors
dc.contributor.authorJocelyn Laporte
dc.contributor.organizationfi=biolääketieteen laitos|en=Institute of Biomedicine|
dc.contributor.organizationfi=lastentautioppi|en=Paediatrics and Adolescent Medicine|
dc.contributor.organizationfi=tyks, vsshp|en=tyks, varha|
dc.contributor.organization-code1.2.246.10.2458963.20.77952289591
dc.converis.publication-id35990407
dc.converis.urlhttps://research.utu.fi/converis/portal/Publication/35990407
dc.date.accessioned2022-10-28T12:38:27Z
dc.date.available2022-10-28T12:38:27Z
dc.identifier.jour-issn2051-5960
dc.identifier.olddbid177896
dc.identifier.oldhandle10024/160990
dc.identifier.urihttps://www.utupub.fi/handle/11111/34974
dc.identifier.urnURN:NBN:fi-fe2021042719842
dc.language.isoen
dc.okm.affiliatedauthorGardberg, Maria
dc.okm.affiliatedauthorDataimport, Lastentautioppi
dc.okm.affiliatedauthorDataimport, tyks, vsshp
dc.okm.discipline3112 Neurosciencesen_GB
dc.okm.discipline3124 Neurology and psychiatryen_GB
dc.okm.discipline3112 Neurotieteetfi_FI
dc.okm.discipline3124 Neurologia ja psykiatriafi_FI
dc.okm.internationalcopublicationinternational co-publication
dc.okm.internationalityInternational publication
dc.okm.typeB1 Scientific Journal
dc.publisherBMC
dc.publisher.countryUnited Kingdomen_GB
dc.publisher.countryBritanniafi_FI
dc.publisher.country-codeGB
dc.relation.articlenumberARTN 93
dc.relation.doi10.1186/s40478-018-0593-2
dc.relation.ispartofjournalActa Neuropathologica Communications
dc.relation.volume6
dc.source.identifierhttps://www.utupub.fi/handle/10024/160990
dc.titleSome DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
dc.year.issued2018

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