论文信息 - Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy

Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy

The recent advances in genetics have helped to unravel the cause of many dystonia syndromes. With the broadening spectrum of genetically defined dystonia syndromes, distinct clinico‐radiological phenotypes are a welcome handle to guide the diagnostic work‐up.

[1] K. Bhatia,et al. Isolated and combined dystonia syndromes – an update on new genes and their phenotypes , 2015, European journal of neurology.

[2] A. Vanderver,et al. NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern , 2013, Neurology.

[3] Michael T. Ryan,et al. Next‐generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation , 2012, Human mutation.

[4] M. Rivas,et al. Nature Genetics Advance Online Publication High-throughput, Pooled Sequencing Identifies Mutations in Nubpl and Foxred1 in Human Complex I Deficiency , 2022 .