Table 6 First reported cases due to TCAP genotypes and clinical presentations

c.32C > A/c.–178G > T/c.453A > C

p.Ser11Ter/-/p.Ala151 = 

Homo/Hetero/Hetero

1

1

LGMD-2G

Yes

Indian

M

2 y

 + 

calves

ND

 + 

 + 

ankle

 + 

ND

ND

ND

mild foot drop, progressive pectoral girdle

[19]

c.32C > A/c.–178G > T/c.453A > C

p.Ser11Ter/-/p.Ala151 = 

Homo/homo/homo

1

1

LGMD-2G

Yes

Indian

F

8 y

 + 

calves

ND

 + 

 + 

ankle

 + 

ND

ND

ND

Wheelchair-bound state, mild foot drop, progressive pectoral girdle

[19]

c.32C > A/c.–178G > T/c.453A > C

p.Ser11Ter/-/p.Ala151 = 

Homo/homo/homo

1

1

LGMD-2G

Yes

Indian

F

8 y

 + 

calves

ND

 + 

 + 

ankle

 + 

ND

ND

ND

Ambulant, mild foot drop, progressive pectoral girdle

[19]

c.1630G > A

p.Arg18Gln

Hetero

1

2

IDC

ND

Caucasian

ND

ND

ND

ND

ND

ND

ND

 + 

ND

ND

[20]

c.1968G > A

p.Glu49Lys

Hetero

1

3

IDC

ND

Caucasian

ND

ND

ND

ND

ND

ND

ND

 + 

ND

ND

[20]

c.2244C > G

p.Pro141Ala

Hetero

1

4

IDC

ND

Caucasian

ND

ND

ND

ND

ND

ND

ND

 + 

ND

ND

[20]

c.75G > A

p.Trp25Ter

Homo

1

5

LGMD-2G

ND

Moldavian

F

15 y

 + 

calves

ND

ND

ND

ND

ND

 + 

the lower extremities

 + 

anterior compartment

of legs

mild weakness in shoulder girdle muscles

[21]

c.157C > T

p.Gln53Ter

Homo

2

6

LGMD-2G

ND

Brazilian

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

[22]

c.637–640delGG/c.157C > T

-/p.Gln53Ter

Com Hetero

1

7

LGMD-2G

ND

Brazilian

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

[22]

c.172C > T

p.Gln58X

Homo

1

8

telethonin deficiency

No

French

M

9 m

ND

ND

 + 

 + 

the Achilles’ tendons

ND

ND

 + 

ND

delayed motor milestones, waddling gait, mild hyperlordosis, mild upper limb distal joint hyperlaxity, Gower’s maneuver

[23]

c.37–39delGAG

p.Glu13del

Homo

1

9

HCM

No

Caucasian

M

47 y

ND

ND

ND

ND

ND

ND

ND

ND

Dyspnea, (pre)syncope

[6]

c.37–39delGAG

p.Glu13del

Homo

1

10

HCM

No

Caucasian

M

37 y

ND

ND

ND

ND

ND

 + 

ND

ND

Angina, dyspnea, sudden cardiac death

[6]

c.208C > T

p.R70W

Homo

1

11

HCM

No

Caucasian

F

44 y

ND

ND

ND

ND

ND

 + 

ND

ND

Asymptomatic, Dyspnea, Atrial fibrillation

[6]

c.269C > T

p.P90L

Homo

1

12

HCM

No

Caucasian

F

26 y

ND

ND

ND

ND

ND

 + 

ND

ND

Angina, dyspnea, presyncope, Atrial fibrillation

[6]

c. 226C > T

p.Arg76Cys

Hetero

1

13

Intestinal pseudo-obstruction

ND

Italian

M

42 y

ND

ND

ND

ND

ND

ND

ND

intestinal pseudo-obstruction, delayed small bowel and colon transit

[24]

c.244C > T

p.Gln82X

Homo

1

14

LGMD-2G

No

Indian

M

8 y

ND

 + 

Thigh, calf muscles, gluteal

 + 

 + 

asymmetric Achilles tendon, bilateral elbow flexion, hip and ankle joints

 + 

 + 

Especially lower

 + 

toe-walking, frequent fall, a wide-based gait with lumbar hyperlordosis, wheelchair bound, distal phalanx flexion weakness, a few episodes of chocking

[25]

c.255C > A

p.Tyr85*

Homo

1

15

LGMD-2G

Yes

Spanish

2 y

ND

 + 

Thighs, the tibialis anterior muscles

 + 

 + 

symmetric Achilles tendon, patellar

ND

 + 

 + 

toe walking, frequent fall, asymmetric calves, Gowers’ maneuver

[26]

c.316C > T

p.Arg106Cys

Hetero

2

16

HCM

No

Danish

ND

30–32 y

ND

ND

ND

ND

ND

 + 

ND

ND

apical hypertrophy

[17]

c.* + 76G > T

Homo

1

17

HCM

No

Danish

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

[17]

c.388C > T

p.R130C

Homo

1

18

DCM

ND

British

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

[27]

c.472C > A

p.R158S

Homo

1

19

DCM

ND

British

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

[27]

c.493C > G

p.Q165E

Homo

1

20

DCM

ND

British

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

[27]

c.410C > T

p.Thr137Ile

Hetero

1

21

HCM

No

Japanese

F

29 y

ND

ND

ND

ND

ND

 + 

ND

ND

[10]

c.458G > A

p.R153H

Homo

1

22

HCM

No

Japanese

M

48 y

ND

ND

ND

ND

ND

 + 

ND

ND

[10]

c.395A > C

p.E132Q

Hetero

1

23

DCM

No

Korean

M

34 y

ND

ND

ND

ND

ND

 + 

ND

ND

heart failure

[10]

c.472C > A

p.Arg158Ser

Homo

1

24

DCM

No

Finnish

ND

ND

ND

ND

ND

ND

ND

 + 

ND

ND

LV systolic dysfunction, hypertensive heart disease, primary valve disease, coronary artery disease

[28]

c.472C > T

p.R158C

Homo

1

25

DCM

ND

Canadian

ND

ND

ND

ND

ND

ND

ND

 + 

ND

ND

Hypertension, diabetes, thyroid conditions

[29]

c.90_91del

p.Ser31HisfsX11

Homo

1

26

LGMD-2G

Yes

Turkish

F

2 y

ND

 + 

the dorsal thighs and calves

ND

 + 

Achilles tendon

ND

ND

 + 

Especially leg

 + 

Especially legs

tiptoe-walking, myalgia, hyperlordosis,

[30]

c.26_33dupAGGTGTCG

p.Arg12fsTer31

Homo

2

27

LGMD-2G

Yes

Chinese–Cambodian

M

late teenage years

 + 

Mild calf

ND

 + 

 + 

Achilles tendon

ND

ND

ND

ND

progressive muscle weakness, mild weakness of eye closure, mild weakness of most other muscle groups

[31]

c.45_46delTG

p.Cys15Ter

Het

1

28

LGMD-2G

No

Chinese

ND

late childhood

 + 

calf

ND

 + 

ND

ND

ND

 + 

 + 

wasted sternal head of pectoralis major, finger drop, foot drop

[32]

c.100delC/c.166insG

p.Glu35Argfs*33/p.Gln56Argfs*52

Com hetero

1

29

LGMD-2G

ND

Chinese

ND

ND

ND

ND

ND

ND

ND

 + 

ND

ND

Vacuolar myopathy

[33]

c.37_39delGAG/c.496_499delAGAG

p.Glu13del /p.Arg166AlafsTer21

Comp hetero

1

30

CMD

ND

Korean

M

2 y

ND

 + 

ND

ND

ND

ND

ND

ND

muscle fiber necrosis, increased central nuclei and interstitial fibrosis and/or fatty infiltration

[34]

c.171C > G

p.C57W

Hetero

2

31

HCM

No

Portuguese

F/M

45 y

ND

ND

ND

ND

ND

 + 

ND

ND

paroxysmal atrial fibrillation (AF), a systolic murmur at the left sternal border and aortic area that increased during orthostatism

[35]

c.109_110delGG/c.157C > T

p.Gly37Leufs/p.Gln53X

Comp Hetero

6

32

LGMD-2G

ND

Brazilian

ND

9–15 Y

ND

ND

ND

ND

ND

ND

 + 

Upper

ND

ND

[22]

c.165–166insG

ND

1

33

LGMG-2

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

*(ClinVar)

c.110 + 5G > A

ND

1

34

LGMG-2

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

*(ClinVar)

c.25–31dup

p.Ser11Ter

Homo

1

35

LGMD-2G

ND

ND

ND

26 y

ND

ND

ND

ND

ND

 + 

ND

ND

muscular dystrophy, myopathy, muscle weakness

*(ClinVar)

c.66G > A

p.Trp22Ter

Homo

1

36

HCM

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

*(ClinVar)

c.34dup

p.Glu12fs

Homo

1

37

LGMG-2G

ND

Iranian

M

39–40 y

ND

ND

ND

ND

ND

ND

ND

ND

Myopathy

*(ClinVar)

c.43–49dup

p.Arg17delinsLeuTer

Hetero

1

38

HCM

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

*(ClinVar)

c.103G > T

p.Glu35Ter

Homo

1

39

HCM

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

*(ClinVar)

c.110_110 + 1del

ND

1

40

LGMG

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

*(ClinVar)

c.136_137del

p.Gln46fs

ND

1

41

HCM

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

*(ClinVar)

c.166C > T

p.Gln56Ter

ND

1

42

HCM

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

*(ClinVar)

c.110 + 1G > A

Homo

1

43

LGMG-2G

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

Lower limb muscle weakness, Difficulty climbing stairs

*(ClinVar)

c.14–15del

p.Glu5fs

ND

1

44

Abnormality of the musculature

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

*(ClinVar)