Table 4 Penetrance of bDRA in families with 4 or more carriers.

From: Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

Family ID

Subjects with DRA (n)

Clinical category

Penetrance (%)

Proband

Relatives (n)

FSHD 1639

4

C1

C2 (3)

0

FSHD 219

5

A3

C2 (4)

20

FSHD 1779

5

A2

C (4)

20

FSHD 1011

4

D1

C2 (3)

25

FSHD 1722

4

D1

C2 (3)

25

FSHD 952

7

A3

D2 (1) C2 (5)

28

FSHD 135

9

A2

A2 (2) B1 (1) C (5)

45

FSHD 1239

4

B1

B1 (1) C (2)

50

FSHD 348

5

B1

B1 (2) C (2)

60

FSHD 1855

5

A2

D1 (1) D2 (1) C (2)

60

FSHD 1624

4

A3

A2 (2) D2 (1)

100

FSHD 1971

4

A2

B1 (2) D1 (1)

100