(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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