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. Author manuscript; available in PMC: 2010 Jan 25.
Published in final edited form as: Mol Genet Metab. 2008 Feb 1;94(1):16–37. doi: 10.1016/j.ymgme.2007.11.018

Table 1.

Detailed compilation of biochemical and clinical findings associated with pathogenic mutations in nuclear DNA genes currently implicated in primary mitochondrial diseases.

graphic file with name nihms49523f5.jpg
b

Sensorineural hearing loss (most commonly localized to the central brainstem or peripheral cochlear in pediatric and adult patients, respectively) can be seen in virtually any mitochondrial disease, although it is rarely the presenting complaint

Footnote: Citations for Table 1. Complex I structural subunits [151], B17.2L & NDUFAF1 [151], SDHA [152], SDHC [153], SDHD [153], BCS1L [154, 155], SURF1 [156], SCO1 [157], SCO2 [158], COX10 [159], COX15 [160, 161], ETHE1 [162], LRPPRC (LSFC) [138], ATP12 [163], PDSS1 [164], PDSS2 [165], COQ2 [164], APTX [166], ADCK3 [167], ETFDH [168], TSFM [169], TUFM [170], EGF1 [170], MRPS16 [171], PUS1 [172], DARS2 [173], PDHA1 [14], POLG1 [107], TK2 [174, 175], DGUOK [176], MPV17 [137], SUCLA2 [177],SUCLG1 [177],RRM2B [178], TWINKLE [179], ANT1 [180], ABC7 [181], FXN [182], OPA1 [183], DDP1 [184], SPG7 [185, 186], TAZ [187]