| 1 | NDUFA2, NDUFA2D
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| NDUFA2 complex I mutation leads to Leigh disease.
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| Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP.
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| Am J Hum Genet 82(6):1306-15. 2008
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| 2 | PFDN1, APBB3, PCDH1, PCDHGC3, CDRT1, ANKHD1, EIF4EBP3, IK, NDK1, HNRNPA0, MSPT, RPLP2, NDUFA2, FGF1, CYB5R3
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| A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences.
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| Horrigan SK, et al.
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| Genomics 57(1):24-35. 1999
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| 3 | NDUFA2, NDUFA6, NDUFA7, NDUFB8, NDUFS8
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| In situ hybridisation mapping of genomic clones for five human respiratory chain complex I genes.
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| Dunbar DR, Shibasaki Y, Dobbie L, Andersson B, Brookes AJ.
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| Cytogenet Cell Genet 78(1):21-4. 1997
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