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A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report

BACKGROUND: Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms and rate of progression in subtypes of these disorders. Here...

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Detalles Bibliográficos
Autores principales:	Ziyaee, Fateme, Shorafa, Eslam, Dastsooz, Hassan, Habibzadeh, Parham, Nemati, Hamid, Saeed, Amir, Silawi, Mohammad, Farazi Fard, Mohammad Ali, Faghihi, Mohammad Ali, Dastgheib, Seyed Alireza
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332642/ https://www.ncbi.nlm.nih.gov/pubmed/30642275 http://dx.doi.org/10.1186/s12881-018-0743-1

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