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- W1558895931 abstract "Marinesco–Sjogren syndrome (MSS) is a rare autosomal recessively inherited neurodegenerative disorder characterized by cerebellar ataxia with cerebellar atrophy, early-onset cataracts, mild to severe mental retardation, hypotonia, and muscle weakness. Additional features include strabismus, hypergonadotropic hypogonadism, short stature, and orthopedic manifestations. The diagnosis is usually based on evaluation of clinical, neuroimaging, and muscle biopsy data combined with molecular genetic testing. Mutations in the SIL1 gene, which encodes an endoplasmic reticulum (ER) resident cochaperone, were recently identified as a major cause of MSS. SIL1 is so far the only gene associated with MSS and mutations can be found in 50–60% of patients." @default.
- W1558895931 created "2016-06-24" @default.
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- W1558895931 date "2010-01-01" @default.
- W1558895931 modified "2023-09-23" @default.
- W1558895931 title "Marinesco-Sjogren’s Syndrome" @default.
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- W1558895931 doi "https://doi.org/10.1016/b978-0-12-374105-9.00344-0" @default.
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