Table 1

Mitochondrial respiratory chain diseases

(A) Primary mitochondrial DNA mutations
 (1) Rearrangements
  (a) Single deletions
   CPEO (MIM 165130)5 6
   Kearns-Sayre syndrome (MIM 165100)7
   Pearson syndrome8
   Diabetes and deafness9
  (b) Multiple deletions
   Recurrent myoglobinuria11
 (2) Point mutations
  (a) Missense mutations (coding region)
   LHON (MIM 535000)
    G11778A ND513
    G3460A ND114
    T14484C ND615
   Optic atrophy and dystonia
    A11696G ND416
    G14459A ND617
    T14596A ND616
    T9957C COX III18
    G13515A ND519
   Encephalomyopathy and myopathy
    G9952A COX III20
   NARP/Leigh disease/striatal necrosis
    T3308C ND121
    T8851C ATPase622
    T8993G/C ATPase623 24
    T9176C ATPase625 26
  (b) Transfer RNA gene
   MELAS (MIM 251910)
    G1642A tRNAVal 27
    A3243G tRNALeu(UUR) 28
    A3252G tRNALeu(UUR) 29
    A3260G tRNALeu(UUR) 30
    T3271C tRNALeu(UUR) 31
    T3291C tRNALeu(UUR) 32
    A5814G tRNACys 33
   MERRF (MIM 254775)
    A8344G tRNALys 34
    T8356C tRNALys 35
    G8363 tRNALys 36
   MERRF/MELAS overlap
    T7521C tRNASer(UCN) 37
    T8356C tRNALys 38
   Diabetes and deafness
    A3243G tRNALeu(UUR) 39
    T12258AtRNASer(AGY) 40
    A3243G tRNALeu(UUR) 41
    A3254G tRNALeu(UUR) 42
    A3260G tRNALeu(UUR) 43
    C3303T tRNALeu(UUR) 44
    A4269G tRNAIlle 45
    A4295G tRNAIlle 46
    A4300G tRNAIlle 47
    C4320T tRNAIlle 48
    G8363A tRNALys 49
    T9977C tRNAGly 50
    A3243G tRNALeu(UUR) 51
    A3251G tRNALeu(UUR) 52
    C3256T tRNALeu(UUR) 53
    T4274C tRNAIlle 54
    T4285C tRNAIlle 55
    G4298A tRNAIlle 56
    A5692G tRNAAsn 57
    G5703A tRNAAsn 53
    T12311C tRNALeu(CUN) 58
    G12315A tRNALeu(CUN) 59
   Pure myopathy
    A606G tRNAPhe 60
    A3243G tRNALeu(UUR) 51
    T3250C tRNALeu(UUR) 61
    A3302G tRNALeu(UUR) 62
    T4409C tRNAMet 63
    G5521A tRNATrp 64
    A8344G tRNALys 34
    A12330G tRNALeu(CUN) 65
    C15990T tRNAPro 66
   Myopathy and diabetes
    A14709G tRNAGlu 67
    G1606A tRNAVal 68
    T10010C tRNAGlu 69
    G15915A tRNATrp 70
   Dementia and chorea
    G5549A tRNATrp 71
    A3243G tRNALeu(UUR) 72
    G8313A tRNALys 73
   Leigh syndrome
    G1644T tRNAVal 74
   Non-syndromic deafness
    A7455G tRNASer(UCN) 75
   Acquired sideroblastic anaemia
    G12301A tRNALeu(CUN) 76
  (c) Ribosomal RNA gene
   Non-syndromic/aminoglycoside induced deafness
    G1555A 12S rRNA77
(B) Nuclear gene mutations
 (1) Nuclear gene defects indirectly affecting mitochondrial function through mtDNA
  Autosomal dominant CPEO with multiple mtDNA deletions (10q23.3-q24.3; 3p14.1-21.2)78 79
  Mitochondrial neurogastrointestinal encephalomyopathy (thymidine phosphorylase deficiency — mutations in thymidine phosphorylase gene 22q13.32-qter)80
 (2) Nuclear genetic disorders of the mitochondrial respiratory chain
  Multisystem disease (complex I deficiency — mutations in AQDQ subunit on chr 5)81
  Leigh syndrome (complex I deficiency — mutations in NDUFS8 subunit)82
  Optic atrophy and ataxia (complex II deficiency — mutations in Fp subunit of SDH on chr 3)83
  Leigh syndrome (complex II deficiency — mutations in Fp subunit of SDH on chr 3)84
  Leigh syndrome (complex IV deficiency — mutations in SURF I gene 9q1)85 86
  Benign infantile myopathy with COX deficiency87
  Fatal infantile myopathy with COX deficiency88