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.