Table 1.

Review of the reports of PGAM2 mutations and the phenotype.

Patient age (y)	Sex	Enzyme activity (% of normal)	Response to forearm ischemic testing (FIT)		Skeletal muscle histology and ultrastructure		Ethnicity	Reference
			Lactate rise	Ammonia rise	Tubular aggregates	Increased glycogen
53	M	21%	3.6×	16×	No	Yes	Italian	Current Case [22]
23	M	8.1% (mean)	2×	–	No	Yes	Italian	[18]
25	M	3%	2×	7×	Yes	–	African- American	[9]
20	M	3%	2×	6×	Yes	No	African- American	[9]
52	F	8%	–	–	Yes	–	African- American	[2]
44	M	3%	1×	6×	–	No	Italian	[11]
52	M	3.6%	Low	–	–	Yes	African- American	[6]
65	M	5%	–	–	Yes	–	Italian	[1]
17	F	6%	2×	Normal	–	Yes	Unknown	[13]
24	M	5.3%	1.9×	–	Yes	No	African- American	[14]
17	F	2.1%	–	–	No	No	African-American	[5]
30	M	2.6%	–	–	No	No	African- American	[5]
31	F	–	2×	–	–	–	Italian	[16]
25	M	2.4%	2×	7×	–	–	Pakistan	[17]
43	M	22%	Normal	Normal	Yes	Yes	African-American	[15]

– Not done/No info.