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Article

Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders.

Biochemical and biophysical research communications - 29 Apr 2016

Mkaouar-Rebai Emna, Felhi Rahma, Tabebi Mouna, Alila-Fersi Olfa, Chamkha Imen, Maalej Marwa, Ammar Marwa, Kammoun Fatma, Keskes Leila, Hachicha Mongia, Fakhfakh Faiza

Abstract excerpt

Mitochondrial diseases are a heterogeneous group of disorders caused by the impairment of the mitochondrial oxidative phosphorylation system which have been associated with various mutations of the mitochondrial DNA (mtDNA) and nuclear gene mutations. The clinical phenotypes are very diverse and the spectrum is still expanding. As brain and muscle are highly dependent on OXPHOS, consequently, neurological...

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PMID: 27033601
DOI: 10.1016/j.bbrc.2016.03.126

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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