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Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene.

Biochemical and biophysical research communications - 22 Apr 2016

Felhi Rahma, Mkaouar-Rebai Emna, Sfaihi-Ben Mansour Lamia, Alila-Fersi Olfa, Tabebi Mouna, Ben Rhouma Bochra, Ammar Marwa, Keskes Leila, Hachicha Mongia, Fakhfakh Faiza

Abstract excerpt

Mitochondrial diseases encompass a wide variety of pathologies characterized by a dysfunction of the mitochondrial respiratory chain resulting in an energy deficiency. The respiratory chain consists of five multi-protein complexes providing coupling between nutrient oxidation and phosphorylation of ADP to ATP. In the present report, we studied mitochondrial genes of complex I, III, IV and V in 2 Tunisian patients...

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PMID: 26993169
DOI: 10.1016/j.bbrc.2016.03.050

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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