MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.

Abstract excerpt

Disorders of mitochondrial DNA (mtDNA) maintenance are clinically and genetically heterogeneous, embracing recessive mtDNA depletion syndromes affecting children and adult-onset multiple mtDNA deletion disorders. Here we show that mutation of MPV17 - a gene implicated in severe, infantile hepatocerebral mtDNA depletion disorders characterised by a loss of mtDNA copies - can also cause clonally-expanded mtDNA...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cerebral Cortex
• Share to Gene Deletion