Table 1.

List of all study participants with their cDNA mutations, the respective amino acid changes and residual activities.

Patient	Sex	Age*	cDNA mutation (NM_002633.2)	Amino Acid Change (NP_002624.2)	Genotype	PGM1 enzyme activity in cultured skin fibroblasts (% of controls)
1#	F	21 years	c.1264C>T c.1588C>T	p.R422W p.Q530X	Heterozygous compound nonsense and missense	0
2%	M	11 years	c.1010C>T c.1508G>A	p.T337M p.R503Q	Heterozygous compound missense	5
3$	F	19 years	c.988G>C c.1129G>A	p.G330R p.E377K	Heterozygous compound missense	1.3$
4#	M	2 years	c.157_158delinsG c.1507C>T c.661C>T c.1258T>C	p.Q53Gfs*15 p.R503X p.R221C p.Y420H	Heterozygous compound nonsense and missense	5#
5$	M	13 years	c.787G>T c.1551C>A	p.D263Y p.Y517X	Heterozygous compound nonsense and missense	2.8$
6#	F	3 years	c.689G>A	p.G230E	Homozygous missense	NA#
7	F	19 months	c.661C>T c.1258T>C	p.R221C p.Y420H	Heterozygous compound missense	17**
8$	F	16.5 years	1507C>T	p.R503X	Homozygous nonsense	7.7
9#	M	2 years	c.112A>T	p.N38Y	Homozygous missense	3.1#

F, female; M, male; NA, not available.

PGM1 enzyme activity measurements are included where available. Enzyme activity was assayed in cultured skin fibroblasts derived from patients, except for patient 7, where the activity was measured in patient blood. PGM1 is present in leukocytes but absent in red blood cells, where PGM2 is the dominant PGM isoenzyme. Although PGM2 is more active as a phosphopentomutase than as a phosphoglucomutase, it has shown to exhibit about 10% phosphoglucomutase activity in vitro (Maliekal et al. 2007).

Individuals previously reported are indicated by

^$(Tegtmeyer et al. 2014),

^%(Ondruskova et al. 2014), and

^#(Wong et al. 2016).

^*Age at the time of study enrollment

^**PGM1 enzyme activity measured in blood