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Article

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

American journal of human genetics - 7 Jul 2016

Sánchez-Caballero Laura, Ruzzenente Benedetta, Bianchi Lucas, Assouline Zahra, Barcia Giulia, Metodiev Metodi D, Rio Marlène, Funalot Benoît, van den Brand Mariël A M, Guerrero-Castillo Sergio, Molenaar Joery P, Koolen David, Brandt Ulrich, Rodenburg Richard J, Nijtmans Leo G, Rötig Agnès

Abstract excerpt

Mitochondrial complex I deficiency results in a plethora of often severe clinical phenotypes manifesting in early childhood. Here, we report on three complex-I-deficient adult subjects with relatively mild clinical symptoms, including isolated, progressive exercise-induced myalgia and exercise intolerance but with normal later development. Exome sequencing and targeted exome sequencing revealed...

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Identifiers

PMID: 27374773
DOI: 10.1016/j.ajhg.2016.05.022
PMCID: PMC5005453

Provenance

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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