[…] paraplegin mutations lead to mitochondrial DNA deletions by impairing proteins involved in the homeostasis of the mitochondrial genome.
[journals.plos.org]
DNA Deletions AR 97.08 64 of 65 TNNI2 Distal Arthrogryposis Type 2b, Digitotalar Dysmorphism, Sheldon-Hall Syndrome AD 100 11 of 11 TNNT1 Nemaline Myopathy AR 89.94 7 of
[igenomix.es]
DNA deletions PLoS One, 9 (1), e86340 DOI 10.1371/journal.pone.0086340, PubMed 24466038 Horn MA, Erichsen MM, Wolff AS, Månsson JE, Husebye ES, Tallaksen CM, Skjeldal OH
[ous-research.no]