Associated Papers
Mitochondrial DNA or Genomic DNA Variant(s): Utility of Exhaustive Sequencing in Leigh Syndrome.
Gaignard P et al.
American Journal of Medical Genetics. Part A, 2025
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Alston CL et al.
American Journal of Human Genetics, 2020
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