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Table 1 Clinical features of mutations in the head region of MyHCI linked to phenotypes of myopathy

From: A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report

Age Sex

Onset

Further weakness distribution

Additional involvements

Mutation

Ref.

Age Symptoms

Proximal

Distal

Axial

Lower limbs

Hip

Cardiac

Respiratory

Base

Protein

58 F

Adult Thigh muscle weakness

ND

ND

Neck flexors

Tibialis anterior (4/5)

Psoas (4/5)

HCM

ND

c.745_746delCGinsGA

p.Arg249Glu

[7]

40F

Adult Tibialis anterior weakness

No

Yes

No

No

No

No

No

c.1322C > T

p.Thr441Met

[8]

07 M

Child (Age of 11 months) Walking on the toes

No

Yes

No

No

Hip flexors

Yes

No

c.1322C > T

p.Thr441Met

[5]

40 F

Child Overall fatigue Lower limb weakness

Deltoids, biceps and triceps (3/5)

Yes

No

Foot dorsiflexion (2/5) Plantar flexors (2/5)

Hip flexors (1/5), abductors and adductors (4/5)

Yes

Yes

c.1370 T > G

p.Ileu457Arg

This study

39F

Adult Hands onset

Yes

Yes

Yes

No

No

No

No

c.1780C > A

p.Leu594Met

[7]

53F

Adult Pain and weakness of forearms and lower legs

Yes

Intrinsic muscles of hands (4/5)

ND

Dorsiflexors of the ankle and great toe (4/5) Bilateral hypertrophy of Tibialis anterior

ND

HCM

ND

c.1816G > A

p.Val606Met

[6]

  1. All positions are based on numbering using transcript NM_000257.3