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Table 2 Phenotype in index cases and affected carriers at the time of examination

From: Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

 

ICs

Affected carriers

n (%)

n (%)

Facial weakness

49 (75%)

20 (59%)

Scapular weakness

65 (100%)

32 (94%)

Pectoral weakness

55 (85%)

20 (59%)

Abdominal weakness

51 (78.5%)

20 (59%)

Asymmetry

49 (75%)

23 (68%)

Steppage

31 (48%)

2 (6%)