Marinesco-Sjögren syndrome

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Marinesco-Sjögren syndrome2016-12-06T14:57:35+00:00

Marinesco-Sjögren syndrome

GENETICS

Definition An autosomal recessive condition (OMIM:248800) characterised by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy with marked muscle replacement by fat and connective tissue, and delayed psychomotor development, variably accompanied by short stature, hypergonadotrophic hypogonadism, and skeletal deformities due to muscle weakness.

Molecular pathology Defects of SIL1, which encodes a glycoprotein required for protein translocation and folding in the endoplasmic reticulum, cause Marinesco-Sjögren syndrome. 

Synonyms Cataract-oligophrenia syndrome, hereditary oligophreniccerebellolental degeneration, Marinesco-Garland syndrome, Marinesco-Sjögren-Garland syndrome, MSS, Sjögren II syndrome, Torsten-Sjögren syndrome 

References http://www.uniprot.org/uniprot/Q9H173

http://www.omim.org/entry/248800

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