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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Bibliografiske detaljer
Main Authors: Goto, Masahide, Okada, Mari, Komaki, Hirofumi, Sugai, Kenji, Sasaki, Masayuki, Noguchi, Satoru, Nonaka, Ikuya, Nishino, Ichizo, Hayashi, Yukiko K
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2014
Fag:
Research
Online adgang: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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