Table 1. Patients' clinical and molecular features.

						POMT1 mutations
Patient	Disease onset (years)	Current age	Phenotype	Mentation/brain MRI	Cardiomyopathy onset (years)	Nucleotide change	Amino-acid change
1	Birth	17	CMD-MR	MR/ microcephaly	17	c.2005G>A c.1241+1G>A	p.Ala699Thr p.His384_Thr414del
2	3	20	LGMD-MR	Slight MR/ normal	12	c.430A>G c.1241C>T	p.Asn144Asp p.Thr414Met
3	33	34	LGMD-NORM	Normal/normal	34	c.1864C>T r(=,1052_1053insGTAAG)	p.Arg622* =, p.Ile351Metfs15

Abbreviations: CMD-MR, congenital muscular dystrophy with mental retardation; LGMD-MR, limb-girdle muscular dystrophy with mental retardation; LGMD-NOMR, LGMD with no mental retardation; MR, mental retardation; MRI, magnetic resonance imaging; POMT1, protein-o-mannosyltransferase 1.