Associated Papers
Analysis of Human Mutations in the Supernumerary Subunits of Complex I.
Dang QL et al.
Life (basel, Switzerland), 2020
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder.
Alagia M et al.
Jimd Reports, 2020
Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.
Perrier S et al.
Clinical Genetics, 2018
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