Table 1.  Genotype–phenotype correlation: comparison with existing data from the literature.

Genotype a	Number of patients	Phenotype	Score b	References
[p.E260K]+[p.E260K]	1	PMLD1	0	Present study
[p.Y269D]+[p.R237X]	1	PMLD1	1	2,7
[p.T395I]+[?]	1	PMLD1	1	7
[p.A95G_V96insT]+[?]	1	PMLD1	2	7
[p.P128Rfs]+[p.P128Rfs]	1	PMLD1	2	7
[p.G146S]+[?]	1	PMLD1	2	7
[p.G233R]+[p.G233R]	1	PMLD1	2	7
[p.G233S]+[p.G233S]	3 (1 fam)	PMLD1	2/3	4
[p.P87S]+[p.P327Rfs]	1	PMLD1	3	2,7
[p.H129Pfs]+[p.H129Pfs]	8 (1 fam)	PMLD1	3	4
[p.Y229X]+[p.Y229X]	2	PMLD1	3	7
[p.A322Pfs]+[p.A322Pfs]	1	PMLD1	3	7
[p.M283T]+[p.M283T]	3 (1 fam)	PMLD1	3	2,7
[p.L278Afs]+[ p.L278Afs]	1	PMLD1	3	4
[c.-167A>C]+[c.-167A>C]	15 (8 fam)c	PMLD1	3/4	10,11,13
[p.L25Rfs]+[p.L25Rfs]	2 (1 fam)	PMLD1	3/4	7
[p.P302Rfs]+[p.P302Rfs]	3 (2 fam)	PMLD1	3/4	5,6
[p. R122X]+[p.R122X]	1	PMLD1	4	12
[p.I43M]+[p.I43M]	1	PMLD1	4	9
[p.P70Tfs]+[p.P70Tfs]	1	PMLD1	4	9
[p.P128Rfs]+[?]	1	PMLD1	4	7
[p.E204Gfs]+[p.E204Gfs]	1	PMLD1	4	7
[p.T262A]+[p.T262A]	1	PMLD1	4	7
[p.C315Pfs]+[p.C315Pfs]	2 (1 fam)	PMLD1	4	7
[p.T395I]+[?]	1	PMLD1	4	7
[p.I33M]+[p.I33M]	3 (1 fam)	SPG44	—	13

Abbreviations: fam, family; PMLD1, Pelizaeus–Merzbacher-like disease 1; SPG44, spastic paraplegia autosomal recessive type 44.

^aNomenclature of mutations as suggested recommended by Orthmann-Murphy et al.¹⁶

^bAccording to Cailloux et al¹⁵ for PLMD1 patients.

^cTo be noted that Combes et al¹¹ reported the c.-167A>C mutation as compound heterozygosity in two other patients with a previously reported second deleterious mutation.⁷