The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.

Keyword

Finland

Gene Deletion

Guanine Nucleotide Exchange Factors/analysis/*genetics/metabolism

Heat-Shock Proteins/*metabolism

Humans

Molecular Chaperones/*metabolism

Muscle; Skeletal/chemistry

Mutation

Protein Folding

Proteins/*metabolism

Research Support; Non-U.S. Gov't

Spinocerebellar Degenerations/*genetics/*metabolism

Publication and Content Type

ref (subject category)

art (subject category)