Neuromitochondrial Disorders : Genomic Basis and an Algorithmic Approach to Imaging Diagnostics.

Abstract excerpt

Mitochondrial disorders have been an enigma for a long time due to the varied clinical presentations. Although a genetic confirmation will be mandatory most of the time, half the number of Leigh syndrome would be negative for genetic mutations. There are a growing number of mutations in clinical practice, which escape detection on routine clinical exome sequencing. Imaging would render help in pointing towards...

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