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Table 5 Genes covered to date

From: Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

Plate

Protein

Phenotype

# exons

# Assays

Genes

    

PLATE #1

    

DMD

dystrophin

Duchenne/Becker

79

128

PLATE #2

    

CAV3

caveolin

LGMD 1C

2

11

FKRP

fukutin related

LGMD 2I(CMD)

4

18

CAPN3

calpain3

LGMD 2A

30

52

TRIM32

tripartate contain32

LGMD 2H

3

15

PLATE #3

    

SGCA

sarcoglycan alpha

LGMD 2D

10

13

SGCB

sarcoglycan beta

LGMD 2E

6

20

SGCG

sarcoglycan gamma

LGMD 2C

8

20

SGCD

sarcoglycan delta

LGMD 2F

10

17

LMNA

lamin a/c

LGMD 1B(EDMD)

12

15

  1. Lists the genes covered by plates 1 through 3, the proteins coded by those genes, the associated phenotype when the gene is mutated, the number of exons and assays associated with each gene.