. Author manuscript; available in PMC: 2014 Feb 28.

Published in final edited form as: Compr Physiol. 2011 Jul;1(3):1603–1648. doi: 10.1002/cphy.c100059

Table 7.

Genes encoded by nuclear and mitochondrial DNA in which mutations have been reported in patients with exercise intolerance

Gene	OMIM #	Location	Reference
Nuclear DNA:
CPT2	255110	1p32	(184, 318, 321, 355, 356)
AMPD1	102770	1p13	(131, 226)
ETFDH	231675	4q32-q35	(91)
SLC25A4	103220	4q35	(225)
PGAM2	261670	7p13-p12	(107, 335, 340)
LDHA	150000	11p15.4	(337)
PYGM	232600	11q12-q13.2	(338)
PFKM	232800	12q13.3	(291, 336, 358)
SGCG	253700	13q12	(350)
TK2	188250	16q22-q23.1	(363)
ENO3	131370	17pter-p11	(64)
ACADVL	201475	17p13-p11	(283)
SGCA	600119	17q21	(195)
POLG2	604983	17q23.3	(171, 361)
GYS1	138570	19q13.3	(153)
GK	307030	Xp21.3	(118)
PHKA1	311870	Xq12-q13	(47)
PGK1	311800	Xq13	(339)
LAMP2	309060	Xq24	(207)
Mitochondrial DNA:
MTTL1	590050	3230 – 3304	(53, 128)
MTND1	51600	3307 – 4262	(206)
MTTI	590045	4263 – 4331	(54)
MTTM	590065	4402 – 4469	(29, 352)
MTTY	590100	5826 – 5891	(248)
MTCO1	516030	5904 – 7445	(137)
MTTS1	590080	7445 – 7516	(100, 247)
MTTD	590015	7518–7585	(289)
MTCO2	516040	7586–8269	(191)
MTTK	590060	8295 – 8364	(202)
MTCO3	516050	9207 – 9990	(29, 113, 125)
MTND4	516003	10760 – 12137	(14)
MTTL2	590055	12266 – 12336	(138, 354)
MTTE	590025	14674 – 14742	(114)
MTCYB	516020	14747 – 15887	(11–13, 26, 48, 141, 159, 179, 284)