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Children's Mercy Hospital


Discovery of CLPB gene associated with a new pediatric mitochondrial syndrome

Researchers at Children's Mercy Hospital identified the CLPB gene associated with a new pediatric mitochondrial syndrome, characterized by cataracts, psychomotor regression, epilepsy, and death in early childhood. The discovery demonstrates the importance of basic research into human CPLB gene function and paves the way for diagnosing ...

SourceChildren's Mercy Hospital·JournalAmerican Journal of Human Genetics·DateJan 15, 2015