Table 1_Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease.xlsx

Table 1_Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease.xlsx

Background and Objectives<p>Improved detection sensitivity from combined Long-Range PCR (LR-PCR), Next-Generation Sequencing (NGS), and droplet digital PCR (ddPCR) to identify multiple large-scale mtDNA deletions (MLSMD) and quantify deletion heteroplasmy have introduced clinical interpretatio...

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Main Author: Jing Wang (6206297) (author)
Other Authors: James T. Peterson (9344622) (author), Joaquim Diego D. Santos (21024833) (author), Ada J. S. Chan (21024836) (author), Maria Alejandra Diaz-Miranda (21024839) (author), Imon Rahaman (21024842) (author), Jean Flickinger (21024845) (author), Amy Goldstein (21024848) (author), Emily Bogush (21024851) (author), Elizabeth M. McCormick (5234189) (author), Colleen C. Muraresku (21024854) (author), Vernon E. Anderson (267919) (author), Matthew C. Dulik (21024857) (author), Douglas C. Wallace (57574) (author), Rui Xiao (260235) (author), Marni J. Falk (6806003) (author), Angela N. Viaene (17772270) (author), Zarazuela Zolkipli-Cunningham (5234186) (author)
Published: 2025
Subjects:
Pharmacology
primary mitochondrial disease (PMD)
mitochondrial DNA (mtDNA)
electron transport chain (ETC) enzymatic activity
ragged red fibers (RRF)
ragged blue fibers (RBF)
multiple large-scale mitochondrial DNA deletions (MLSMD)
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