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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
  1. NIV non-invasive ventilation, VC vital capacity