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Transmembrane protein variants found to cause a new developmental disorder

Transmembrane protein variants found to cause a new developmental disorder
medicalxpress.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from medicalxpress.com Daily Mail and Mail on Sunday newspapers.

Debdeep Dutta , Hugoj Bellen , Proceedings Of The National Academy Sciences , Baylor College Of Medicine , Diseases Network , National Academy , Baylor College , Dan Duncan Neurological Research Institute , Texas Children , Undiagnosed Diseases Network ,

Study reveals pathogenic mechanism of rare pediatric neurodegenerative disorder

A recent study published in Nature Metabolism has revealed the pathogenic mechanism underlying a rare pediatric neurodegenerative disorder known as mitochondrial enoyl reductase protein-associated neurodegeneration (MEPAN) syndrome. ....

Debdeep Dutta , Megan Craig , Hugoj Bellen , Baylor College Of Medicine , Nature Metabolism , Baylor College , Dan Duncan Neurological Research Institute , Texas Children , Dimes Professor , Developmental Biology , Infantile Neuroaxonal Dystrophy , Fatty Acids , Neurodegenerative Disorder ,