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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...
Autores principales: | Pokrzywa, Malgorzata, Norum, Michaela, Lengqvist, Johan, Ghobadpour, Mehrnaz, Abdul-Hussein, Saba, Moslemi, Ali-Reza, Tajsharghi, Homa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4636365/ https://www.ncbi.nlm.nih.gov/pubmed/26544689 http://dx.doi.org/10.1371/journal.pone.0142094 |
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