Article
A nationwide survey on Marinesco-Sjögren syndrome in Japan.
Orphanet journal of rare diseases - 23 Apr 2014
Goto Masahide, Okada Mari, Komaki Hirofumi, Sugai Kenji, Sasaki Masayuki, Noguchi Satoru, Nonaka Ikuya, Nishino Ichizo, Hayashi Yukiko K
Abstract excerpt
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 genetic features are not yet fully understood. METHODS: We conducted a nationwide, questionnaire-based survey on MSS...
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