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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Detalhes bibliográficos
Main Authors: Goto, Masahide, Okada, Mari, Komaki, Hirofumi, Sugai, Kenji, Sasaki, Masayuki, Noguchi, Satoru, Nonaka, Ikuya, Nishino, Ichizo, Hayashi, Yukiko K
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4021608/
https://ncbi.nlm.nih.gov/pubmed/24755310
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-58
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