Article
Resolving complexity in mitochondrial disease: Towards precision medicine.
Molecular genetics and metabolism - 1 Jan 2000
Boggan Róisín M, Lim Albert, Taylor Robert W, McFarland Robert, Pickett Sarah J
Abstract excerpt
Mitochondrial diseases, caused by mutations in either the nuclear or mitochondrial genomes (mtDNA), are the most common form of inherited neurometabolic disorders. They are remarkably heterogeneous, both in their clinical presentation and genetic etiology, presenting challenges for diagnosis, clinical management and elucidation of molecular mechanism. The multifaceted nature of these diseases, compounded by the...
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