Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC

OBJECTIVE: An essential role for embryonic MyHC in foetal development has been found from its association with distal arthrogryposis syndromes, a heterogeneous group of disorders characterised by congenital contractions. The latter probably result from severe myopathy during foetal development. Lack...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:PLoS One
Prif Awduron: Pokrzywa, Malgorzata, Norum, Michaela, Lengqvist, Johan, Ghobadpour, Mehrnaz, Abdul-Hussein, Saba, Moslemi, Ali-Reza, Tajsharghi, Homa
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2015
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4636365/
https://ncbi.nlm.nih.gov/pubmed/26544689
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0142094
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