Leiden Muscular Dystrophy pages©

Diagnostic techniques for screening neuromuscular disorders

(last modified February 4, 2011)



Tabular overview

Gene

Gene symbol Disease Technique
DNA RNA protein
calpain-3 CAPN3 LGMD2A SSCA, DHPLC RT-PCR  
caveolin CAV3 LGMD1B SEQ RT-PCR  
dysferlin DYSF MM, LGMD-2B SSCA RT-PCR  
dystrophin DMD DMD / BMD /
XLDCM
overview
(mPCR, Q-mPCR, MAPH, MLPA, CSCE, DGGE, DHPLC, Southern)
several several
emerin EMD EMD SEQ RT-PCR  
fukutin-related protein FKRP LGMD-2I SEQ RT-PCR  
Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase GNE DMRV, IBM-2, sialuria SEQ RT-PCR several
lamin A/C LMNA   DHPLC, SEQ, SSCA    
laminin-alpha 2 LAMA2 MDC-1A SSCA RT-PCR+SSCA,
PTT
 
myostatin MSTN MH SEQ    
myotilin TTID LGMD-1A DHPLC    
sarcoglycan-alpha SGCA LGMD-2D DHPLC, DGGE RT-PCR  
sarcoglycan-beta SGCB LGMD-2E DHPLC, SSCA RT-PCR  
sarcoglycan-gamma SGCG LGMD-2C DHPLC    
sarcoglycan-delta SGCD LGMD-2F DHPLC    
sarcoglycan-epsilon SGCE   DHPLC, SSCA, SEQ RT-PCR  
sarcoglycan-zeta SGCZ        


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