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Table 1 Clinical, histopathological and genetic features

From: MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

#

 

Age

Family history

Onset of symptoms

Weakness distribution

Scoliosis

Respiratory involvement

Cardiac involvement

CK U/l

EMG

Muscle biopsy

Mutation

1

M

70

yes

adult

proximal and distal lower limb

no

no

CMH

944

myopathic

cores

c.4303 T > C p.Ser1435Pro

TA weakness

2

F

64

yes

adult

axial, proximal and distal lower limb

yes

no

no

normal

myopathic

cores

c.4303 T > C p.Ser1435Pro

TA weakness

3

F

36

yes

adult

distal lower limb

no

no

no

normal

myopathic

na

c.4303 T > C p.Ser1435Pro

4

M

22

no

childhood

axial, distal upper and lower limbs

rigid spine

yes

recurrent pericarditis

711

na

minicores

c.4850_4852del p.Lys1617del

TA weakness

mild restrictive from age 16

5

F

48

yes

childhood

distal upper and lower limbs

yes

no

no

normal

na

minicores

c.4807G > C p.Ala1603Pro

TA weakness

6

F

16

yes

congenital

axial, distal upper and lower limbs

yes

no

no

normal

na

na

c.4807G > C p.Ala1603Pro

7

M

8

no

congenital

axial

yes

no

LVNC

normal

myopathic

minicores

c.5655 + 1G > A p.1854_1885del

8

M

35

noa

childhood

axial and distal

yes

no

no

720

myopathic and neurogenic

cores

c.4850_4852del p.Lys1617del c.4855G > A p.Glu1619Lys

TA weakness

9

M

68

yes

adult

axial proximal distal

yes

no

LVNC and PM

400-500

myopathic

FTD

c.5401G > A, p.Glu1801Lys

10

M

40

yes

adult

proximal and distal lower limb

no

no

LVNC and PM

400-500

myopathic

FTD

c.5401G > A, p.Glu1801Lys

11

M

38

yes

adult

proximal and distal lower limb

no

no

LVNC

400-500

na

na

c.5401G > A, p.Glu1801Lys

12

M

7

yes

no muscle symptom

normal

no

no

LVNC

1400

na

na

c.5401G > A, p.Glu1801Lys

13

F

59

yes

adult

proximal and distal lower limb

rigid spine

no

no

normal

myopathic

cores

c.4315G > C p.Ala1439Pro

proximal onset

14

F

58

no

adult

proximal upper and lower limb

na

no

no

450

myopathic and neurogenic

unspecific

c.4363G > T, p.Glu1455X

15

F

20

no

childhood

axial and distal lower limb

yes

yes

no

normal

na

unspecific

c.4475 T > C p.Leu1492Pro

NIV needed from age 17

16

F

39

no

adult

axial proximal distal

no

no

no

normal

myopathic

na

c.1780C > A p.Leu594Met

hands onset

17

M

36

no

childhood

axial and distal upper and lower limb

no

no

no

normal

na

unspecific

c.5779A > T, p.Ile1927Phe

18

F

18

no

congenital

axial and distal lower limb

yes (severe)

yes

left bunlde block

normal

myopathic

unspecific

c.5655G > A, p.Ala1885Ala

NIV needed from age 7

19

F

33

yes

childhood

proximal and distal upper and lower limb

yes

yes

no

normal

myopathic

minicores

c.4850_4852del, p.Lys1617del

TA weakness

mild restrictive from age 25

20

F

39

no

adult

distal axial and proximal

no

no

no

normal

myopathic

cores

c.5808G > C, p.X1936Tyr

21

F

40

no

adult

distal

no

no

no

500

myopathic

hyalin bodies

c.1322C > T p.Thr441Met

TA weakness

  1. FTD fibre type disproportion, NIV non invasive ventilation, LVNC left ventricular non compaction, PM pace-maker, CMH cardiomyopathy hypertrophic. a case 8 reported negative family history albeit his mother actually carries one mutation of MYH7 but shows no symptoms of myopathy nor cardiac disease