From: Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype
Inheritance | Pathogenic variant | Subdomain | Clinical features of pronounced ophthalmoparesis, with | References |
---|---|---|---|---|
Motor head and neck | ||||
Autosomal Dominant (yellow bar) | c.2166G>A, p.Glu706Lys | SH1 helix | Classical form: joint contractures in infancy (outgrown); progressive proximal limb muscle weakness; hand weakness and tremor; mild facial weakness; axial hyperlordosis and kyphoscoliosis | |
Autosomal recessive (green bar) | ||||
 Homozygous | c.1009-1G>A, p.Ser337Leufs*11 | Exon 10 skipping | Dysphagia in infancy; ptosis; tall, thin, with scoliosis; mild truncal and proximal limb muscle weakness | [36] |
 Homozygous | c.737 G>A p.Arg246His | ATP-binding, Switch I | Proximal and facial muscle weakness, ptosis, dysphagia, joint laxity | [5] |
 Homozygous | c.2400delG, p.Phe801Serfs*28 | IQ motif | Facial, neck flexor, upper and proximal lower limb muscle weakness; scoliosis | |
 Homozygous | c.2398delG, p.Gly800fs27* | IQ motif | Severe dysphagia in infancy, neck and proximal muscle weakness | [31] |
 Heterozygous | c.904+1G>A, p.Tyr269-Glu302delfs* c.2347C > T p. Arg783* | Exon 9 Actin binding—IQ motif | Facial, neck, elbow and ankle flexion; mild proximal muscle weakness; ptosis; joint hypermobility | [25] |
 Heterozygous | c.1975-2A>G, p.Glu659-Gly687delfs*11 c.2405T>A p.Leu802* | Actin binding IQ motif | Facial, upper and proximal lower limb, and abdominal muscle weakness; congenital pectus carinatum | [27] |
 Heterozygous | c.1331C>T, p.Arg445Cys c.2405T>A, p.Leu802* | Exon 12 IQ motif | Early childhood onset; facial, neck flexor, proximal arm, hand, hip flexor and abdominal muscle weakness | [26] |
 Homozygous | c.533C>T, p.Thr178Ile | ATP binding, P-loop | Early childhood onset; facial, neck flexor, proximal limb and hand muscle weakness; lumbar lordosis | [26] |
 Homozygous | c.706G>A, p.Ala236Thr | ATP-binding, Switch I | Early childhood onset; facial, neck flexor, proximal limb and hand muscle weakness | [26] |
 Homozygous | c.1592T>C, p.Met531Thr | Exon 14 | Adolescent onset; facial, neck flexor, proximal limb and hand muscle weakness; finger contractures | [26] |
 Homozygous | c.1498G>T, p.Glu500* | Relay loop | Neck flexor, proximal upper and lower limb muscle weakness; early cataracts | [6] |
Coiled-coil tail | ||||
Autosomal dominant (yellow bar) | c.5609T>C, p.Leu1870Pro | Helix heptad disruption, ‘d’ position | Neonatal onset; severe dysphagia; facial muscle weakness and ptosis; scoliosis; waddling-steppage gait | [2] |
 Autosomal dominant (yellow bar) | c.5630T>C p.Leu1877Pro | Helix heptad disruption, ‘d’ position | Dysphagia; prominent distal > proximal muscle weakness; ptosis; asymetrical scapular winging | [1] |
Autosomal recessive (green bar) | Â | Â | Â | Â |
 Homozygous | c.4352delA, p.Lys1451Serfs*40 | Exon 29, tail truncation | Neonatal onset; facial, neck flexor, and proximal limb weakness; marked ptosis | [26] |
Motor head+coiled coil tail | ||||
Autosomal Recessive | Â | Â | Â | Â |
 Heterozygous (green bar) | c.2377C>T, p.Arg793* | IQ motif, truncation | Proximal lower, then upper limb muscle weakness; scapular winging; ptosis and diplopia; waddling gait | [30] |
 | c.4381G>T, p.Glu1461* | Tail truncation |  |  |
 Heterozygous (black bar) | c.1546T>G, p.Phe516Val | Relay loop | Upper limb and proximal lower limb muscle weakness; facial weakness and ptosis; joint laxity; waddling gait | This report |
 | c.3331C>T, p.Gln1111* | Tail truncation |  |  |