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Neuromuscular and Mitochondrial Pathology

Patologia neuromuscular i mitocondrial a Vall d'Hebron Institut de Recerca

Vall d’Hebron Hospital’s Neuromuscular and Mitochondrial Pathology research group is particularly interested in understanding the pathogenic mechanisms involved in structural gene mutations of mitochondrial DNA. 

Description

The group focuses on studying the pathological mechanisms of mitochondrial deoxyribonucleic acid (mtDNA) mutations associated with neuromuscular syndromes. From approaches in the fields of genetics and biochemistry, the group is particularly working on understanding the pathogenic mechanisms involved in mtDNA structural gene mutations, as well as the cell compensation mechanisms in mtDNA depletion syndrome. In addition, genetic and molecular research is also being conducted into different neurological syndromes and type V glycogen storage disease.

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