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Table 1 MyHC-IIA variants by location and clinical features
figure a

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

[3, 14, 15, 29]

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

[12, 13]

 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)

    

 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

    

 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

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