Article
Improving post-natal detection of mitochondrial DNA mutations.
Expert review of molecular diagnostics - 1 Oct 2020
Barcia Giulia, Assouline Zahra, Magen Maryse, Pennisi Alessandra, Rötig Agnès, Munnich Arnold, Bonnefont Jean-Paul, Steffann Julie
Abstract excerpt
INTRODUCTION: Currently, genetic testing of mitochondrial DNA mutations includes screening for single-nucleotide variants, several base pair insertions or deletions, large-scale deletions, or relative depletion of total mitochondrial DNA content. Within the last decade, next-generation sequencing (NGS) has resulted in remarkable advances in the field of mitochondrial diseases (MD) and has become a routine step of...
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