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A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report

BACKGROUND: Few manuscripts have reported phenotypes of skeletal muscle myopathies caused by mutations in the head region of slow/cardiac beta-myosin heavy chain (MyHCI). Among the patients, some of them showed the phenotype of skeletal muscle weakness with the obvious clinical features of cardiomyo...

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Detalles Bibliográficos
Autores principales:	Mamelona, Jean, Filice, Louisa, Oussedik, Youcef, Crapoulet, Nicolas, Ouellette, Rodney J., Marrero, Alier
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507130/ https://www.ncbi.nlm.nih.gov/pubmed/31068177 http://dx.doi.org/10.1186/s12881-019-0804-0

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