Table 7

Patient samples tested to date and variations found

Plate #

Patient #

Gene

Variation: DNA experimentally determined(protein: theoretically deduced)

Exon/Intron

CK value

Age of Onset

DYS -IHC


1

B1101.1

DMD

c [2521C>T] (p.Gln841X)

20

2601

Female->10 y/o

N/A


1

9

DMD

c.8038C>T(p.Arg2680X)

55

11,010

8

N/A


1

174

DMD

c.2614_2615insA (p.?)

20

N/A

6

N/A


1

343

DMD

c.829C>T(p.Gln277X)

8

32,000

5

N/A


1

383

(BMD)

DMD

c.13208_13209ins

ACCTTATGTGACGCTGG

3'UTR

3,935

11

N/A


1

B1105.1

DMD

no causative variation found

1500

18


1

B1028.1

DMD

no causative variation found

10,000

5

absent


1

1

DMD

no causative variation found

N/A

N/A

N/A


1

B646.1

DMD

no causative variation found

450

20's


2

B646.1

FKRP

c [826C>A]+ [826C>A](p.Leu276>Ile)

4

450

20's


2

B1141.1

CAV3

c [84C>A]+ [=](p.Asp28Glu)

1

2400

37

Normal


2

B1092.1

CAPN3

c [551C>T(+)706G>A] (p.Thr184Met +Ala236Thr)

4,5

289

6

Normal


2

B1102.1

CAPN3

c [550delA(+)1967dupACATTTTCAAGCAG]

4,17

2000

34

faint


2

B1103.1

no causative variation found

9505

1

Normal


2

B112.1

no causative variation found

156

1

Normal


2

B1149.1

no causative variation found

1074

10


2

B122.1

no causative variation found

593

2

Normal


2

B695.1

no causative variation found

321

2-3

Normal


2

B848.1

no causative variation found

Normal


Far left column lists the plate number used to test the sample, the next column lists patient sample number, the next column lists the gene in which a causative or possibly causative variation was found and the next column lists variations. N/A means data not available. Note that patient samples with no causative variation found on one plate may be repeated on another plate, and that patients have not yet been tested against all three plates.

Bennett et al. BMC Genetics 2009 10:66   doi:10.1186/1471-2156-10-66

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