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A nationwide survey on Marinesco-Sjögren syndrome in Japan

BACKGROUND: Marinesco-Sjögren syndrome (MSS) is an autosomal recessive multisystem disorder characterized by the tetralogy of cerebellar ataxia, congenital cataracts, intellectual disability, and progressive muscle weakness due to myopathy. MSS is extremely rare, and its clinical, pathological, and...

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Detalles Bibliográficos
Autores principales:	Goto, Masahide, Okada, Mari, Komaki, Hirofumi, Sugai, Kenji, Sasaki, Masayuki, Noguchi, Satoru, Nonaka, Ikuya, Nishino, Ichizo, Hayashi, Yukiko K
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021608/ https://www.ncbi.nlm.nih.gov/pubmed/24755310 http://dx.doi.org/10.1186/1750-1172-9-58

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