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 |
