Latest MSS Research
Pubmed is the best source of information about the latest MSS research. Some technical papers are available at no cost. If you are interested in a particular paper, please contact us. Here is a very brief summary of the most recent papers.
http://www.ncbi.nlm.nih.gov/pubmed/24755310 reviewed 36 patients from Japan. Most of the patients had the same SIL1 mutation. Clinical features of patients without SIL1 mutations were indistinguishable from those with SIL1 mutations.
http://www.ncbi.nlm.nih.gov/pubmed/24473200 describes mechanisms that may contribute to mental retardation in MSS.
http://www.ncbi.nlm.nih.gov/pubmed/24362440 looked at the Sil1 mouse mutant woozy to explore mechanisms leading to Sil1 deficiency-related skeletal muscle pathology. The mouse abnormalities were similar to the myopathy in human MSS patients.
http://www.ncbi.nlm.nih.gov/pubmed/24176978 did SIL1 mutation analysis on 62 patients. 60% of the patients with ataxia, cataracts, and myopathy had SIL1 mutations. Not all had intellectual disability. Cataracts were present in all patients over seven years, but not always in infants.
http://www.ncbi.nlm.nih.gov/pubmed/23829326 looked at 15 patients from 14 families and found 7 different SIL1 mutations. Some patients had novel clinical features, but there was no clear way to distinguish those with and without SIL1 mutations.