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Table 1 Clinical characteristics of myofibrillar myopathy patients with an identified mutation

From: Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Pat.

M/F

FH

Gene

Exon

Mutation

AAO

AAE

First symptom

Weakness

Multisystemic symptoms

CK

         

UL prox.

UL dist.

LL prox.

LL dist.

ptosis

axial

scapular winging

dys-phagia

dys-phonia

respiratory involvement

cardiac involvement

PNP

hearing imp.

 

F1.III.1

M

+

DES

6

Arg350Pro

39

47

weakness LL

+

-

+

+

-

-

-

-

-

-

-

-

-

1031

F2.III.4

M

+

DES

6

Arg350Pro

42

74

weakness LL

-

-

+

+

-

+

-

-

-

-

-

-

-

2690

F3.II.3

M

+

DES

6

Arg350Pro

48

59

dyspnoea

+

+

+

+

+

-

-

-

-

VC 45%,NV

TAA intermittent, LV hypertrophy

-

+

2044

F4.II.2

M

+

DES

6

Arg350Pro

36

42

weakness LL

+

-

+

+

-

-

-

+

-

-

-

-

+

1159

F5.II.2

M

+

DES

1

Ser2Ile

60

72

syncopes

+

-

+

+

-

+

+

-

-

-

3°AVB, PM

-

-

nl

F6.1

F

-

DES

3

Glu245Asp

51

62

weakness LL

-

-

+

+

-

-

-

-

-

-

DCM, AF, 3 °AVB, PM, TI

-

-

nl

F7.IV.2

M

+

FLNC

18

Val930_Thr 933del

28

40

weakness LL

-

-

+

-

-

-

+

-

-

-

-

-

-

629

F7.III.4

F

+

FLNC

18

Val930_Thr 933del

53

60

weakness LL

-

-

+

+

-

-

-

-

-

-

-

-

+

388

F8.III.3

F

+

FLNC

48

Trp2710X

53

59

dyspnoea

+

-

+

+

-

-

+

-

-

VC 35%,NV

-

-

-

500

F9.1

M

-

MYOT

2

Ser60Phe

67

71

dyspnoea

-

-

-

+

+

-

-

-

-

-

LBBB, HF, AF, 3°AVB intermittent, PM

ad/sm

-

206

F10.1

M

-

MYOT

2

Ser60Phe

63

67

myalgia LL

-

-

+

-

-

-

-

-

-

-

-

-

-

589

F11.1

M

-

MYOT

2

Ser55Phe

55

60

weakness LL

+

-

+

+

-

-

-

-

-

mild

AF, PM, ICD, DCM, HTx,

-

-

608

F12.III.3

F

+

ZASP

6

Ala165Val

46

57

walking difficulties

-

+

-

-

-

-

-

-

-

-

-

-

-

182

F13.1

M

-

BAG3

3

Pro209Gln

34

43

weakness LL

+

-

+

+

-

-

+

-

-

-

-

a/sm

-

1050

F14.1

M

+

CRYAB

3

Gly154Ser

69

69

rhabdomyolysis

-

-

-

-

-

-

-

-

-

VC 65%

-

-

-

2000

  1. M/F, male/female; FH, family history; AAO, age at onset; AAE, age at examination; CK, level of creatine kinase in serum in U/L (normal value < 174); UL, upper limb; LL, lower limb; prox., proximal; dist., distal; PNP, polyneuropathy; Hearing imp., hearing impairment; VC, vital capacity; NC, nocturnal ventilation; TAA, tachyarrhythmia absoluta; LV, left ventricle; 3° AVB, complete atrioventricular conduction block; nl, normal; DCM, dilated cardiomyopathy; AF, atrial fibrillation; PM, pace maker; TI, tricuspid insufficiency; LBBB, left bundle branch block; HF, heart failure; ad/sm, axonal demyelinating/sensorimotor; ICD, implantable cardioverter defibrillator; HTx, heart transplantation; a/sm, axonal/sensorimotor; for abbreviations of genes see text.