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Table 3 Number and type of variant alleles in healthy subjects and FSHD patients

From: The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure

 

Chr. 4 alleles

Chr. 10 alleles

 

Healthy

FSHD

Healthy

FSHD

Total number of alleles

212

140

212

140

Variant alleles (total)

19(9%)

8(6%)*

13(6%)

13(9%)

   homogeneous KpnI array

0

0

12

11

   heterogeneous KpnI array

19

8

1

2

p13E-11 deletion

2

0

0

0

  1. *only one variant 4q allele is disease-related
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BMC Medical Genetics

ISSN: 1471-2350

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