scholarly journals Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

2015 ◽  
Vol 24 (14) ◽  
pp. 3948-3955 ◽  
Author(s):  
Claire Angebault ◽  
Majida Charif ◽  
Naig Guegen ◽  
Camille Piro-Megy ◽  
Benedicte Mousson de Camaret ◽  
...  
Keyword(s):  
Early Onset ◽  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

2003 ◽  
Vol 21 (6) ◽  
pp. 582-586 ◽  
Author(s):  
Paule Bénit ◽  
Réjane Beugnot ◽  
Dominique Chretien ◽  
Irina Giurgea ◽  
Pascale De Lonlay-Debeney ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Early Onset ◽  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex

scholarly journals Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

2018 ◽  
Vol 103 (4) ◽  
pp. 592-601 ◽  
Author(s):  
Charlotte L. Alston ◽  
Juliana Heidler ◽  
Marris G. Dibley ◽  
Laura S. Kremer ◽  
Lucie S. Taylor ◽  
...  
Keyword(s):  
Early Onset ◽  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Complex I Deficiency
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