Table 1 Summary of all the reported patients with distal myopathy of neuromyopathy

From: Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

References   Pitceathly et al. [8] Pitceathly et al. [8] Bekheirnia et al. [9] Tasca et al. [22] Tang et al. [5] Tang et al. [5] Pt 1 Pt2 Pt3
Sex   Male Male Female Male NR NR Male Female Female
Age at onset (years)   Early adolescence Early thirties 1 15 31.4 40.8 1 0.8 2
POLG variants Mutation c.[2687 T > G];[ = ] c.[2851 T > C];[ = ] c.[2851 T > A];[ = ] c.[2840 A > G];[ = ] c.[752 C > T; 1760 C > T]; [2794 C > T] c.[752 C > T; 1760C > T]; [2794 C > T] c.[1943C > G]; [2794 C > T] c.[752 C > T; 1760C > T]; [2827 C > T] c.[752 C > T; 1760C > T]; [2827 C > T]
  Gene location Exon 17 Exon 18 Exon 18 Exon 18 Exon 3, exon 10, exon 18 Exon 3, exon 10, exon 18 Exon 10, exon 18 Exon 3, exon 10, exon 18 Exon 3, exon 10, exon 18
  Predicted polypeptide change p.[(Leu896Arg)]; [ = ] p.[(Tyr951His)];[ = ] p.[(Tyr951Asn)]; [ = ] p.[(Lys947Arg)]; [ = ] p.[(Thr251Ile), (Pro587Leu)]; [(His932Tyr)] p.[(Thr251Ile), Pro587Leu)]; [(His932Tyr)] p.[(Pro648Arg)]; [(His932Tyr)] p.[(Thr251Ile),Pro587Leu)]; [(Arg943Cys)] p.[(Thr251Ile),Pro587Leu)]; [(Arg943Cys)]
Clinical phenotype   Distal myopathy (upper limb predominant) Distal myopathy (upper limb predominant) Upper limb distal myopathy ovarian dysgenesia Upper and lower limb distal myopathy with RRF Neuromyopathy with RRF Neuromyopathy with RRF Upper and lower limb distal neuromyopathy with RRF Upper and lower limb distal neuromyopathy with RRF Upper and lower limb distal neuromyopzathy with RRF
CK   1.5-5 X Normal NR 1.5 X NR Elevated 1.5 X 2 X 2 X
Electromyography   NCS normal EMG myopathic NCS normal EMG myopathic NCS normal EMG myopathic NCS normal EMG myopathic Neuropathy Neuropathy Neuropathy Neuropathy Neuropathy
Cataracts   Yes (removed at age 3 years) Yes (removed in childhood) Yes (removed at age 1 year) Yes (removed at age 54) Yes NR Yes (removed in childhood) Yes (removed in childhood) Yes (removed in childhood)
Glaucoma   No No No No No No Yes Yes Yes
Ophthalmoplegia   Yes Yes No Yes Yes NR No No No
Other     Seizures Methyl-glutaconic aciduria Arrhythmia Ptosis     
  1. NCS nerve conduction studies, NR non reported, RRF ragged red fibers