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Table 3 Putative causal variations in patients with undetermined neuromuscular diseases

From: Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

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)
  1. 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