Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

Table 3

Results of enzymatic investigations and BN-PAGE electrophoresis of patients with complex III deficiencies.

Reduction of enzymes [tissue]	MT-CYB	CYC1	UQCRB	UQCRC2	UQCRQ	UQCC2	UQCC2	UQCC3	TTC19	LYRM7	BCS1L
Complex III [muscle]	Yes	3§/3	n.a.	1§/1	3/3 (22 = n.a.)	1/1	1/1	1/1	Most	6/9 (3 = n.a.)	Reduced
Complex III [fibroblasts]	Yes	2/2	1/1	2/2 (2 = n.a.)	n.a.	1/1	0/1	1/1	Some	1/9 (8 = n.a.)	Reduced
Complex III [liver]		1/1 (1 = n.a.)	1/1	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	1/9 (8 = n.a.)	Variable
Complex I [muscle]	Yes	1§/2 (1 = n.a.)	n.a.	1§/1	3/3 (22 = n.a.)	1/1	1/1	1/1	Normal	1/9 (8 = n.a.)	Variabe
Complex I [fibroblasts]		n.a.	n.a.	1/2 (2 = n.a.)	n.a.	1/1	0/1	0/1	Normal	n.a.	Variable
Complex I [liver]		1/1 (1 = n.a.)	1/1	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	Variable
Complex I [BN-PAGE] fibroblasts	Muscle	1/2	n.a.	2/2 (2 = n.a.)	n.a.	1/1	0/1	1/1	Normal	0/1 (8 = n.a.)	Variable
Complex IV [muscle]		1§/3	n.a.	1§/1	2/3 (22 = n.a.)	1/1	Reduced	0/1	Normal	n.a.	Variable
Complex IV [fibroblasts]		0/1 (1 = n.a.)	1/1	0/2 (2 = n.a.)	n.a.	1/1	0/1	0/1	Normal	n.a.	Variable
Complex IV [liver]		0/1 (1 = n.a.)	0/1	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.
Complex IV [BN-PAGE] fibroblasts		0/2	n.a.	1/2 (2 = n.a.)	n.a.	Normal	n.a.	0/1	Normal	0/1 (8 = n.a.)	Variable
Literature	Gasparre et al. [3] Zimmermann et al. [9] Blakely et al. [39]	Gaignard et al. [34], §one patient from Tucker et al. [7], no values provided	Haut et al. [22]	Gaignard et al. [34], Gasparre et al. [3], §one patient from Tucker et al. [7], no values provided	Barel et al. [1]	Tucker et al. [7]	This study	Wanschers et al. [8]	Koch et al. [5], Ardissone et al.	Invernizzi et al. [4] Dallabona et al. [24] Kremer et al. [10]	Moran et al. [23]