Table 1: Mitochondrial myopathy due to mutations in mtDNA or nDNA located genes associated with affection of the respiratory muscles.
References |
Gene |
Mutation |
Biochemical defect |
PEO |
Mar O’Callaghan 2012 [1] |
tRNA(Val) |
m.1643A>G |
CII+CIII |
no |
Behin 2012 [2] |
TK2 |
c.323C>T |
CI+CIII+CIV |
no |
Behin 2012 [2] |
TK2 |
c.8dup, c.268C>T |
CI+CIII+CIV |
no |
Wolf 2012 [6] |
tRNA(Lys) |
m.8299G>A |
CI+CIV |
yes |
Smits 2011 [3]&
|
nm |
mtDNA deletion |
nm |
yes |
Martin-Negrier 2011 [8] |
TWINKLE |
p.R374Q |
nm |
yes |
Pronicki 2010 [20]* |
SCO2 |
p.E140K |
CIV |
no |
Giordano 2009 [21] |
POLG1 |
nm |
nm |
no |
Yuri 2008 [19] |
nm |
nm |
nm |
yes |
Sanaker 2007 [9] |
nm |
mtDNAdel |
nm |
yes |
Aure 2007 [18]%
|
nm |
mtDNAdel |
nm |
yes |
Tong 2006 [22] |
nm |
nm |
VLCAD |
no |
Saneto 2006 [23] |
tRNA(Leu) |
m.3243A>G |
CII overactivity |
no |
Easley 2002 [24] |
nm |
nm |
PDG |
no |
Götz 2002 [10] |
nm |
nm |
nm |
yes |
Chotmongkol 2001 [11] |
nm |
nm |
nm |
yes |
Klopstock 1999 [12] |
tRNA(Leu) |
3243 |
nm |
yes |
Rabano 1998 [7] |
nm |
multiple mtDNAdel |
partial CI+CIV |
no |
Von Döbeln 1993 [5] |
nm |
nm |
CI+CIV |
no |
Enter 1991 [25] |
tRNA(Leu) |
m.3243A>G |
nm |
no |
Osanai 1991 [13] |
mtDNAdel |
nm |
nm |
yes |
Barohn 1990 [14]#
|
nm |
nm |
nm |
yes |
Nozaki 1990 [15] |
nm |
nm |
CIV |
yes |
Desnuelle 1988 [16] |
nm |
nm |
nm |
yes |
Carroll 1976 [17] |
nm |
nm |
nm |
yes |
Nm: not mentioned. VLCAC: very-long chain acyl-CoA dehydrogenase deficiency, PDG: pyruvate-dehydrogenase, *: 13 homozygous cases, #: 3 cases, &: 8 cases with PEO due to mtDNA deletion, %: 2 patients.