Leiden Muscular Dystrophy pages

Molecular diagnostic tests in Leiden

( Neuromuscular disorders )

(modified last March 3, 2007)


Disease Gene
(symbol, exons)
DNA RNA Protein
deletion/
duplication
point mutation
DMD / BMD dystrophin
(DMD, 79)
MLPA
multiplex-PCR
Southern
DGGE PTT
(qRT-PCR)
Western, tissue section, MyoD in vitro differentiation
LGMD-1A myotilin
(TTID)
(MAPH) DGGE    
LGMD-1B / EMD-2 lamin A/C
(LMNA)
(MAPH) DGGE    
LGMD-1C caveolin-3
(CAV3, 2)
(MAPH) (SEQ)   tissue section
LGMD-2A calpain-3
(CAPN3)
(MAPH) DGGE   Western
LGMD-2B dysferlin
(DYSF)
    (RT-PCR + SEQ) Western
LGMD-2C gamma-sarcoglycan
(SGCG)
(MAPH) SEQ   tissue section
LGMD-2D alpha-sarcoglycan
(SGCA)
(MAPH) SEQ   tissue section
LGMD-2E beta-sarcoglycan
(SGCB)
(MAPH) SEQ   tissue section
LGMD-2F delta-sarcoglycan
(SGCD)
(MAPH) SEQ   tissue section
LGMD-2G telethonin
(TCAP)
       
EMD emerin   (SEQ) PTT tissue section
SMA   (MAPH)      

Legend:
Disease: name of disease. Gene (symbol, exons): name of gene carrying disease-causing mutations. symbol - official gene symbol (HGNC), exons - number of exons in the gene. DNA: molecular diagnosis performed at DNA-level. deletion/duplication - quantitative screen to detect deletions and duplications, point mutation - screen to detect changes at basepair level. RNA: molecular diagnosis performed at RNA-level. Protein: molecular diagnosis performed at protein-level.



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