Table 1 Clinical, genetic, and histological features of patients with PYROXD1 mutations. All families have been numbered according to the mutation position. Homozygous mutations are highlighted in bold
From: Clinical, histological, and genetic characterization of PYROXD1-related myopathy
Family | Patient | Mutation | Onset | Muscle weakness | Muscle histology | Nasal speech | Scoliosis | Respiration | Other features | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
1 | P1 | c.285 + 1G > A c.464A > G p.(Asn155Ser) | Neonatal | Axial, wheel-chair-bound since age 12 | Internal nuclei, cores, fiber size variability, fibrosis | No | Yes | NIV and oxygen therapy since age 14 | Joint hypermobility | This study |
2 | C.II.1 | c.414 + 1G > A c.464A > G p.(Asn155Ser) | Neonatal | Axial, upper and lower limbs, facial weakness | NA | Yes | Yes | Normal | Joint hypermobility, contractures, rigid spine, high-arched palate | O’Grady et al., 2016 [6] |
C.II.2 | Childhood | Axial, upper and lower limbs, facial weakness | Internal nuclei, cores, myofibrillar inclusions, sarcomeric disorganization | Yes | No | Normal | Joint hypermobility, high-arched palate | |||
3 | P2 | c.464A > G p.(Asn155Ser) | Childhood | Axial, upper and lower limbs | Internal nuclei, cores, myofibrillar inclusions | No | VC 68% | – | This study | |
4 | B.II.2 | c.464A > G p.(Asn155Ser) | Childhood | Proximal and axial, upper and lower limbs, facial weakness | NA | Yes | No | Normal | – | O’Grady et al., 2016 [6] |
B.II.3 | Childhood | Proximal and axial, upper and lower limbs, facial weakness | Internal nuclei, cores, myofibrillar inclusions, sarcomeric disorganization, rods | Yes | No | Abnormal | Ptosis, retrognathia | |||
5 | D.II.1 | c.464A > G p.(Asn155Ser) | Childhood | Proximal and axial, upper and lower limbs, facial weakness | NA | Yes | No | Normal | Ptosis, high-arched palate | O’Grady et al., 2016 [6] |
D.II.3 | Childhood | Proximal and axial, upper and lower limbs, facial weakness | Internal nuclei, cores | Yes | No | Normal | Ptosis, high-arched palate | |||
6 | 1 | c.464A > G p.(Asn155Ser) | Childhood | Proximal, lower limbs, wheelchair-bound since age 37 | NA | No | No | Normal | – | Saha et al., 2018 [9] |
7 | P2 | c.464A > G p.(Asn155Ser) | Childhood | Proximal, upper and lower limbs, requires cane since age 54, facial weakness | Internal nuclei, fiber size variability | No | No | VC 40% | Ptosis, kyphosis | Sainio et al., 2019 [10] |
8 | P3 | c.464A > G p.(Asn155Ser) | Adulthood | Proximal and axial, upper and lower limbs, requires cane since age 70 | NA | No | No | VC 67% | – | Sainio et al., 2019 [10] |
P4 | Adulthood | Proximal and axial, upper and lower limbs, wheelchair-bound since age 66 | Dystrophic features, myofibrillar inclusions | No | No | VC 30% | – | |||
9 | P1 | c.464A > G p.(Asn155Ser) c.1061A > G p.(Tyr354Cys) | Adulthood | Proximal, upper and lower limbs | Internal nuclei, fiber size variability | No | No | VC 54% | – | Sainio et al., 2019 [10] |
10 | E.II.2 | c.464A > G p.(Asn155Ser) c.1159-1160insCAAA | Childhood | Proximal, distal, upper and lower limbs, facial weakness | Internal nuclei, cores | Yes | No | Normal | High-arched palate | O’Grady et al., 2016 [6] |
11 | A.II.1 | c.285 + 1G > A c.1116G > C, p.Gln372His | Childhood | Proximal, distal, axial, upper and lower limbs, facial weakness | Internal nuclei, cores, myofibrillar inclusions, sarcomeric disorganization, rods | Yes | Yes | Abnormal | Joint hypermobility, contractures, rigid spine, pectus excavatum, high-arched palate, dental malocclusion, pes cavus | O’Grady et al., 2016 [6] |
A.II.2 | Childhood | Proximal, distal, axial, upper and lower limbs, facial weakness | NA | Yes | No | Normal | Joint hypermobility, rigid spine, high-arched palate, dental malocclusion | |||
12 | P3 | c.415-976A > G c.1116G > C, p.Gln372His | Neonatal | Proximal, distal, axial, upper and lower limbs, wheelchair-bound since age 13 | Internal nuclei, cores, myofibrillar inclusions, rods | Yes | Yes | NIV since age 15 | High-arched feet, hand length asymmetry, low-set ears, decreased bone density | This study |