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Respiratory chain deficiency in nonmitochondrial disease

Autor: Pyle A, [...], Abicht A, [...], Czermin B, Kleinle S, [...], Holinski-Feder E, et al.
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Veröffentlichungsdatum: 27.04.2015

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Humangenetik

Objective: In this study, we report 5 patients with heterogeneous phenotypes and biochemical evidence of respiratory chain (RC) deficiency; however, the molecular diagnosis is not mitochondrial disease. Methods: The reported patients were identified from acohort of 60 patients in whom RC enzyme deficiency suggested mitochondrial disease and underwent whole-exome sequencing. Results: Five patients had disease-causing variants in nonmitochondrial disease genes ORAI1, CAPN3, COLQ, EXOSC8, andANO10, which would have been missed on targeted nextgeneration panels or on MitoExome analysis. Conclusions: Our data demonstrate that RC abnormalities may be secondary to various cellular processes, including calcium metabolism, neuromuscular transmission, and abnormal messenger RNA degradation.

Neurol Genet. 2015;1(1):e6.

http://doi.org/10.1212/NXG.0000000000000006

Es wurden keine Änderungen des Artikels vorgenommen.

https://creativecommons.org/licenses/by/4.0/