Table 3.
Putative causal variations in patients with undetermined neuromuscular diseases
| Patient | Age (years) | Age of onset (years) | Clinical presentation | Gene | Variation 1 (interpretation) | Variation 2 (interpretation) | Disorder inheritance |
|---|---|---|---|---|---|---|---|
| P11 | 10 | 6 | Proximal and distal limb muscle weakness | COL6A1 | c.1059 + 1 G > Aa(Pathogenic) | - | Bethlem myopathy (AD) |
| P13 | 11 | 0.3 | Motor delay | DNAJB6 | c.525C > G p.Phe175Leu (VUS) | - | LGMD1E (AD) |
| P17 | 21 | 11 | Proximal and distal limb muscle weakness | FKTN | c.607C > T p.Arg203Ter (Likely path.) | c.1238G > T p.Cys413Phe (VUS) | LGMD2M (AR) |
| P20 | 35 | 25 | Limb-girdle muscle weakness | ANO5 | c.1295C > G p.Ala432Gly (Pathogenic) | c.989dupT p.Leu 330Phefs (Pathogenic) | LGMD2L (AR) |
| P21 | 56 | N/A | Limb-girdle muscle weakness | COL6A3 | c.5658G > A p.Arg1886Cys (VUS) | - | Bethlem myopathy (AD) |
| P22 | 46 | <26 | Limb-girdle muscle weakness | DYSF | c.2448 + 2 T > G (Likely path.) | c.3351_3352delAG p.Thr1117Thrfs (Likely path.) | LGMD2B (AR) |
| P25 | 48 | N/A | Proximal and distal limb muscle weakness | NEB | c.24339_24342del p.Leu8113Leufs (Likely path.) | c.24113C > A p.Ser8038Ter (Likely path.) | Nemaline myopathy (AR) |
| P27 | 60 | 57 | Limb-girdle muscle weakness | VCP | c.1158T > C p.Lys386Glu (VUS) | - | Inclusion body myopathy (AD) |
| P28 | 43 | <10 | Limb-girdle muscle weakness (female) | DMD | c.7683G > A (p.Trp2561Ter) (Pathogenic) | - | Duchenne muscular dystrophy (XL) |
| P29 | 48 | <36 | Limb-girdle muscle weakness | GAA | c.-32-13T > G (Pathogenic) | Exon 18 deletion (Pathogenic) | Pompe disease (AR) |
| P30 | 1 | 0 | Motor delay and generalized hypotonia | POMT2 | c.1997A > Gb p.Tyr666Cys (Pathogenic) | c.1997A > Gb p.Tyr666Cys (Pathogenic) | Muscular dystrophy-dystroglycanopathy (AR) |
ade novo variation; bParental heterozygous carrier status confirmed; N/A Not available, VUS variant of uncertain significance. Variations were classified accordingly to the ACMG recommendations